Journal of Medical Genetics最新文献

{"title":"Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies.","authors":"Sarah Anne Graham, Anne McCabe, Victoria Harrison, James Castleman, Sam Doyle, Stephanie Allen","doi":"10.1136/jmg-2025-111301","DOIUrl":"10.1136/jmg-2025-111301","url":null,"abstract":"<p><strong>Background: </strong>Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal dominant disease genes have been detected across multiple studies. The overall contribution of such variants to fetal structural anomalies is unclear and variant filtering strategies may exclude them. In this study, we aimed to characterise the inherited variants in autosomal dominant disease genes detected by prenatal exome sequencing in a large, well-phenotyped cohort.</p><p><strong>Methods: </strong>The outcomes of prenatal exome sequencing for fetuses with structural anomalies referred to our laboratory from April 2019 to February 2025 were reviewed.</p><p><strong>Results: </strong>Prenatal exome sequencing was carried out in 1185 fetuses, resulting in a diagnosis in 30.0% of cases. Autosomal dominant disorders accounted for 59.9% of diagnoses and a risk of recurrence was identified for 19.2% of these. Autosomal dominant conditions with an increased risk for recurrence were therefore identified in 3.5% of fetuses referred for sequencing, and accounted for 11.5% of prenatal exome sequencing diagnoses. Recurrent diagnoses involving inherited variants included rasopathies and type I/II collagen disorders.</p><p><strong>Conclusion: </strong>Inherited variants in autosomal dominant disease genes are a significant contributor to fetal structural anomalies and may have implications for parents' own health as well as management of the current pregnancy and reproductive options. The requirements for genomic counselling, clinical assessment and genetic testing of parents and family members following an inherited finding must be taken into account when planning delivery of a prenatal sequencing service.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"328-336"},"PeriodicalIF":3.7,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13151435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146197839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Later age of natural menopause among women with the pathogenic <i>CHEK2</i> c.1100delC variant: a validation study.","authors":"Maartje A C Schreurs, Antoinette Hollestelle, Muriel A Adank, Yvonne Louwers, Christi J van Asperen, Margreet G E M Ausems, Irma van de Beek, Margriet J Collee, Charlotte J Dommering, Encarna B Gómez García, Marijke R Wevers, Emma M Vieveen, Refika Yigit, Marjanka K Schmidt, Jenny A Visser, Maartje J Hooning","doi":"10.1136/jmg-2025-111339","DOIUrl":"10.1136/jmg-2025-111339","url":null,"abstract":"<p><strong>Background: </strong>The average age of natural menopause (ANM) for European women is 50-52 years. Reproductive risk and lifestyle factors have been found to be associated with ANM. Furthermore, a genome-wide association study found that women with a <i>CHEK2</i> variant reach ANM 3.49 years later than women without a <i>CHEK2</i> variant ('non-carriers'). With this study, we aim to validate this association within <i>CHEK2</i> c.1100delC families.</p><p><strong>Methods: </strong>As part of the HEreditary Breast and Ovarian cancer Netherlands (Hebon) study, all women who underwent genetic testing for pathogenic variants associated with breast or ovarian cancer were invited to participate and complete a questionnaire on established risk factors. We compared the reported ANM between groups and within selected birth cohorts. HRs and 95% CIs for the association of <i>CHEK2</i> status with ANM were estimated via Cox regression models, adjusted for age of menarche, parity, smoking status and hormonal contraceptive use.</p><p><strong>Results: </strong>We included 661 <i>CHEK2</i> c.1100delC heterozygotes, 175 non-carrier relatives and 8839 unrelated non-carriers. <i>CHEK2</i> c.1100delC women reached ANM at a significantly later age (51.8±4.8 years) compared with non-carrier relatives (50.3±4.0 years) and unrelated non-carriers (49.6±4.8 years). Similar patterns were found within the birth cohorts. In Cox regression analysis, heterozygotes were associated with a later ANM compared with unrelated non-carriers (HR 1.58; 95% CI 1.21 to 2.08) and non-carrier relatives (HR 1.83; 95% CI 1.13 to 2.95).</p><p><strong>Conclusion: </strong><i>CHEK2</i> c.1100delC is associated with 1.5-2.2 years later ANM compared with non-carriers, underlining the independence of <i>CHEK2</i> c.1100delC irrespective of heritability of ANM within families.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"291-298"},"PeriodicalIF":3.7,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13151450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146197777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and <i>TRIM37</i> variants.","authors":"Anna H Hakonen, Susann Karlberg, Kirsi Kiiski, Marita Lipsanen-Nyman, Carola Saloranta, Minna Pekkinen, Saila Laakso, Johanna Lehtonen, Janna Saarela, Anna-Kaisa Anttonen, Eveliina Jakkula, Kristiina Aittomäki, Outi Mäkitie","doi":"10.1136/jmg-2025-111325","DOIUrl":"10.1136/jmg-2025-111325","url":null,"abstract":"<p><p>Mulibrey nanism is a rare disorder caused by biallelic tripartite motif containing protein 37 (<i>TRIM37</i>) variants and characterised by prenatal onset growth failure, dysmorphic features, restrictive heart disease and predisposition to tumours. TRIM37 has been linked to regulation of centrosome functions. In chromosomal analysis of two siblings with Mulibrey nanism, we observed mosaic variegated aneuploidies. This prompted us to investigate karyotypes of 10 additional patients with Mulibrey, using fibroblast cultures. In the index patients, the prenatal samples and a postnatal skin biopsy showed a heterogeneous mix of aneuploidies in 7-36% of metaphases. Fibroblast karyotypes of the 10 other patients, who were phenotypically comparable to the index patients, showed clinically relevant, low-level abnormalities in one subject. This is the first report on low-level mosaic aneuploidies in Mulibrey amniocytes and neonatal fibroblasts, detectable by conventional karyotyping. The results are in line with previous observations of segregation errors in human cell lines with <i>TRIM37</i> defects. Further studies are required to elucidate the prevalence and implications of mosaic aneuploidies in Mulibrey nanism.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"308-311"},"PeriodicalIF":3.7,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146213476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Test the grandfather! Incidental in-frame <i>DMD</i> deletions in three asymptomatic families.","authors":"Dorsa Kord, Victoria M Siu","doi":"10.1136/jmg-2025-111103","DOIUrl":"10.1136/jmg-2025-111103","url":null,"abstract":"<p><p>The <i>DMD</i> gene, the largest gene in the human genome, is particularly prone to exonic deletions or duplications due to recombination events during gametogenesis, with frameshift deletions typically seen in Duchenne muscular dystrophy (DMD) and in-frame deletions with Becker muscular dystrophy or X-linked dilated cardiomyopathy. Dystrophic changes in the muscles result in elevated creatine kinase levels. <i>DMD</i> deletions are also associated with cognitive challenges. In this case series, we present three unrelated families with the incidental finding of in-frame <i>DMD</i> deletions on chromosome microarray, two involving exons 49-51 and one involving exons 45-60. All of the children are asymptomatic or minimally symptomatic with normal echocardiograms and inherited the deletion from their maternal grandfathers who are asymptomatic into their 60s.The identification of incidental <i>DMD</i> deletions on chromosome microarray can have important implications in terms of diagnosis, screening and follow-up, prognostication and family planning. The finding of a familial in-frame <i>DMD</i> deletion in an asymptomatic maternal grandfather is reassuring with regard to prognosis and disease course. When a maternally inherited in-frame <i>DMD</i> deletion is identified in an asymptomatic young male, or unexpectedly at the time of invasive prenatal testing, it is crucial to test both maternal grandparents.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"312-316"},"PeriodicalIF":3.7,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146219987","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating the efficiency of nanopore adaptive sampling sequencing in detecting balanced translocation.","authors":"Meng Gao, Jun Ren, Cuiting Peng, Xijing Liu, Jiemei Zheng, Han Chen, Xinlian Chen, Jiamin Wang, Yi Lai, Ting Hu, Shanling Liu","doi":"10.1136/jmg-2025-111347","DOIUrl":"10.1136/jmg-2025-111347","url":null,"abstract":"<p><strong>Background: </strong>Balanced translocation (BT) carriers have a high risk of recurrent miscarriage and abnormal offspring due to unbalanced gamete production. Clinical genetic testing often fails to detect BTs that fall below microscopic resolution or occur in repetitive genomic regions. Long-read sequencing technologies can overcome these limitations by spanning large genomic segments, but whole-genome long-read sequencing remains costly and data-intensive. Nanopore adaptive sampling sequencing, a computational enrichment technique, enables selective sequencing of target regions, offering a cost-effective and flexible alternative. We aimed to assess the efficacy of adaptive sampling for detecting BTs.</p><p><strong>Methods: </strong>Fourteen participants from eight families with suspected BTs were recruited. Peripheral blood samples from parents were subjected to nanopore adaptive sampling sequencing. Karyotyping and Sanger sequencing were performed to confirm the detected breakpoints.</p><p><strong>Results: </strong>Adaptive sampling accurately identified all BT breakpoints in eight families, with translocated fragment sizes ranging from 0.8 to 18 Mb. Our data suggested that a 500 kb flanking region at 20X depth was sufficient for detection, while a 5 Mb region at 15X depth provided enough efficiency. The method achieved comparable sequencing depth to whole-genome long-read sequencing but with reduced data output and lower cost.</p><p><strong>Conclusion: </strong>Nanopore adaptive sampling sequencing enables high-resolution, cost-effective detection of submicroscopic BTs, offering a practical alternative to whole-genome long-read sequencing. This clinical workflow is suitable for cases in which candidate BT regions have been indicated by prior genetic testing.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":"317-327"},"PeriodicalIF":3.7,"publicationDate":"2026-04-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147306859","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies.","authors":"Sanem Yilmaz, Enise Avci Durmusalioglu, Dilara Ece Toprak Dogan, Seda Kanmaz, Tahir Atik, Mehmet Burak Mutlu, Uluç Yiş, Unsal Yilmaz, Aycan Unalp, Sarenur Gökben, Hasan Baş, Arman Rostamlou, Nur Selvi Gunel, Cumhur Gunduz, Hasan Tekgul, Esra Isik","doi":"10.1136/jmg-2026-111485","DOIUrl":"https://doi.org/10.1136/jmg-2026-111485","url":null,"abstract":"<p><strong>Background: </strong>Optical genome mapping (OGM) is a novel technology that enables high-resolution detection of structural variants. This study aimed to evaluate the diagnostic contribution of OGM in early-onset developmental epileptic encephalopathies (DEEs) with unresolved genetic causes.</p><p><strong>Materials and methods: </strong>A total of 38 children with early-onset DEEs (aged 0-18 years) who remained undiagnosed despite conventional karyotyping, chromosomal microarray analysis (CMA) and whole-exome sequencing (WES) were included. All patients underwent detailed phenotypic reassessment and WES reanalysis. One patient received a definitive molecular diagnosis following WES reanalysis. Four patients subsequently withdrew consent, and one patient was excluded due to inadequate DNA quality for OGM. OGM was therefore performed in the remaining 32 patients. Potential OGM findings were validated using appropriate laboratory techniques.</p><p><strong>Results: </strong>Among the 32 patients who underwent OGM, three candidate structural variants were identified. Two variants (2/32, 6.3%), ogm[GRCh38] ins(X;?)(q27.3;?) and ogm[GRCh38] 6p24.1 (13083829_13279761)x1, were confirmed using orthogonal validation methods, resulting in the molecular diagnoses of Fragile X syndrome and <i>PHACTR1-</i>related DEE, respectively.</p><p><strong>Conclusion: </strong>OGM contributed to the identification of clinically relevant structural variants in genetically undiagnosed early-onset DEEs. These findings support the complementary role of OGM in the genetic evaluation of complex neurodevelopmental disorders.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2026-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147698909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical characteristics and prognosis of <i>SDHD</i> pathogenic variant carriers: a systematic review and meta-analysis.","authors":"Xinquan Lian, Liping Shen, Jiayin Song, Mengqi Pang, Yunmeng Zhong, Han Zhang, Yadong Xing, Tao-Hsin Tung, Bo Shen","doi":"10.1136/jmg-2025-111235","DOIUrl":"https://doi.org/10.1136/jmg-2025-111235","url":null,"abstract":"<p><strong>Background: </strong>Germline pathogenic variants (PVs) of succinate dehydrogenase subunit D (<i>SDHD</i>) are major genetic causes of pheochromocytomas and paragangliomas. Existing studies have reported inconsistent findings and lack a comprehensive synthesis regarding penetrance, multifocality and metastatic risk in carriers of <i>SDHD</i> PVs.</p><p><strong>Objective: </strong>To systematically assess age-specific penetrance (in all carriers) and the proportions of multifocality, metastatic disease and mortality among affected carriers, and explore potential genotype-phenotype associations through a systematic review and meta-analysis.</p><p><strong>Methods: </strong>Eligible observational studies were selected from PubMed, MEDLINE and EMBASE that reported age-specific penetrance (in all carriers) and the proportions of multifocality, metastatic disease and mortality among affected carriers (those with tumours). Additionally, data on specific <i>SDHD</i> variants associated with tumour multifocality or metastatic behaviour were collected. Following independent data extraction and quality assessment by two reviewers, these proportions were meta-analysed using random-effects models or fixed-effect model to generate pooled estimates with 95% CIs and prediction intervals.</p><p><strong>Results: </strong>Age-specific penetrance increased from 20% at 20 years of age (95% CI 16% to 25%) to 58% at 40 years (95% CI 48% to 67%) and 82% at 60 years (95% CI 75% to 90%). Among the affected <i>SDHD</i> PV carriers, the pooled proportions were 75% (95% CI 72% to 79%) for multifocal tumours, 3% (95% CI 2% to 4%) for metastatic disease and 1% (95% CI 1% to 2%) for mortality.</p><p><strong>Conclusion: </strong><i>SDHD</i> PV carriers exhibit increasing age-specific penetrance, with a high proportion of patients having multifocal tumours but low proportions of metastatic disease and mortality, providing partial evidence for the need for lifelong monitoring of <i>SDHD</i> PV carriers. However, evidence linking specific variants to these phenotypes is limited and requires further investigation.</p><p><strong>Prospero registration number: </strong>CRD420251060752.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690497","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>Retraction: multiple articles in volume 56, issue 1 (2019)</i>.","authors":"","doi":"10.1136/jmg-2026-56-1-2019ret","DOIUrl":"https://doi.org/10.1136/jmg-2026-56-1-2019ret","url":null,"abstract":"","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2026-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147690509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>ACAN</i>-related disorder, antenatal presentation and phenotypic variability: a case series.","authors":"Nikhil Pattani, Anna Page, Joy L Barber, Juan Carlos Del Rey Jimenez, Suzanne Alsters, Assunta Albanese, Sahar Mansour","doi":"10.1136/jmg-2025-111354","DOIUrl":"https://doi.org/10.1136/jmg-2025-111354","url":null,"abstract":"<p><strong>Background: </strong>Pathogenic <i>ACAN</i> variants ('aggrecanopathies') are increasingly recognised as a non-syndromic cause of skeletal dysplasias and short stature. Unlike many other aetiologies, <i>ACAN</i>-related disorder is reportedly associated with advanced bone age due to early epiphysial fusion, although presentation can vary. This study aimed to further characterise skeletal findings in paediatric and adult patients.</p><p><strong>Methods: </strong>A retrospective study of confirmed <i>ACAN-</i>related disorder cases from a tertiary genetics centre in England was performed. Data collected included patient demographics, antenatal ultrasound imaging (where available), auxology, endocrine investigations, skeletal imaging and genetic variant analysis. Using the Tanner-Whitehouse III method, bone age was calculated from left hand/wrist radiographs.</p><p><strong>Results: </strong>Nine individuals from four families (paediatric=4, adult=5) were included. One individual presented antenatally with shortened long bones on ultrasound. The remaining cohort presented postnatally with short stature and unremarkable endocrine investigations. Of the paediatric patients, bone ages varied significantly: delayed (n=3) and advanced (n=1). Hypochondroplasia-like axial skeletal changes were more specific in affected parents than index children, for example, reduced interpedicular widening inferiorly in the lumbar spine and shortening of vertebral pedicles. Four had short fourth metacarpals. All individuals had pathogenic <i>ACAN</i> variants; two of the variants were novel.</p><p><strong>Conclusion: </strong>Advanced bone age is not a consistent finding and should not be considered pathognomonic of <i>ACAN</i>-related disorder. Hypochondroplasia is a differential diagnosis with similar radiological findings in the axial skeleton. A short fourth metacarpal is a feature of this condition. Although skeletal features may become more pronounced in adulthood, early diagnosis can maximise future possible interventions.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147645648","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease.","authors":"Emilia K Bijlsma, Tamara T Koopmann, Susanne T de Bot, Monique Losekoot","doi":"10.1136/jmg-2026-111509","DOIUrl":"https://doi.org/10.1136/jmg-2026-111509","url":null,"abstract":"<p><p>Presymptomatic testing (PT) for Huntington's disease (HD) has been available for over 40 years. Individuals who opt for PT are typically at a 50% risk, though in rare cases, '25% at-risk individuals' request to know their genetic status. Family planning is one of the main reasons why predictive testing is requested and with the availability of a direct test, new choices regarding reproduction emerged. In pregnancies, couples of whom the at-risk parent (ARP) does not want to know their own status may opt for direct testing in the 25% at-risk fetus. However, this option has a significant disadvantage: in 25% of cases, the gene expansion will be detected in the fetus, simultaneously revealing the ARP's status. Nevertheless, there is a benefit to this approach that has not yet been well exploited: adding haplotyping to a normal prenatal test outcome may find the ARP (the 'linking pin') no longer at risk of developing HD. We have coined the term <i>reverse haplotyping</i> for this approach. Data from three families in which we applied this method are presented. Our aim is to raise awareness of the full potential of DNA analysis in this context.</p>","PeriodicalId":16237,"journal":{"name":"Journal of Medical Genetics","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147645623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}