European journal of medical genetics最新文献

{"title":"Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3","authors":"Kenta Kajiwara ,&nbsp;Qiaowei Liang ,&nbsp;Yuri Uchiyama ,&nbsp;Pin Fee Chong ,&nbsp;Yuko Ichimiya ,&nbsp;Norihisa Monji ,&nbsp;Sakurako Shimokawa ,&nbsp;Motoshi Sonoda ,&nbsp;Eriko Watanabe ,&nbsp;Ayumi Sakata ,&nbsp;Yuri Sonoda ,&nbsp;Satoshi Akamine ,&nbsp;Masataka Ishimura ,&nbsp;Yusuke Murakami ,&nbsp;Yuya Kunisaki ,&nbsp;Koh-Hei Sonoda ,&nbsp;Naomichi Matsumoto ,&nbsp;Yasunari Sakai ,&nbsp;Shouichi Ohga","doi":"10.1016/j.ejmg.2025.105058","DOIUrl":"10.1016/j.ejmg.2025.105058","url":null,"abstract":"<div><h3>Background</h3><div>Neuronal ceroid lipofuscinosis (NCL) is a heterogeneous group of lysosomal disorders characterized by progressive psychomotor regression, visual impairment, and intractable seizures. Genetically, NCL type 3 (CLN3) is associated with variants in the gene encoding a lysosomal transmembrane protein. To date, few Japanese patients with CLN3 have been reported. Thus, their neurodevelopmental and clinical features remain unclear. Here, we report the clinical course of a genetically confirmed Japanese patient with CLN3.</div></div><div><h3>Clinical report</h3><div>A 17-year-old Japanese boy was diagnosed with retinitis pigmentosa at age 7. Visual impairment progressed over a 10-year follow-up period. Generalized tonic-clonic seizures also began at age 7. Developmental regression was recognized at age 13, with an accelerated decline in motor and communication skills following a COVID-19 infection at age 17. Tube feeding and gastrostomy were initiated for dysphagia and recurrent respiratory infections. Serial MRI revealed progressive cerebral and cerebellar atrophy. Lymphopenia (351–1467/μL) was present from age 9; peripheral blood smear revealed vacuolated lymphocytes.</div></div><div><h3>Results</h3><div>Exome sequencing identified a heterozygous <em>CLN3</em> variant, NM_001042432.2:c.295-2A &gt; C. SpliceAI suggested exon 6 skipping and/or an 80-bp deletion, leading to nonsense-mediated mRNA decay. Manual inspection using Integrated Genomic Viewer revealed a second variant (c.178_180delinsACATCCTTAGCCACAAGAG) missed initially. Trio Sanger sequencing confirmed compound heterozygosity: NM_001042432.2:c.[295-2A &gt; C]; [178_180delinsACATCCTTAGCCACAAGAG] p.[?]; [His60Thrfs∗10]. A review of 430 genetically confirmed CLN3 patients (1989–2025) identified no hematologic abnormalities.</div></div><div><h3>Conclusion</h3><div>This Japanese CLN3 patient developed visual impairment 7–8 years before systemic deterioration. Retinal degeneration, together with vacuolated peripheral lymphocytes, may provide early diagnostic clues for CLN3 in Japanese patients.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105058"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145470897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to “A novel RORA genetic variant associated with early-onset obesity and insomnia”","authors":"Alexie Ouellette ,&nbsp;Eric P. Allain ,&nbsp;Abdullah Almaghraby ,&nbsp;Dominique Bouhamdani ,&nbsp;Mouna Ben Amor","doi":"10.1016/j.ejmg.2025.105031","DOIUrl":"10.1016/j.ejmg.2025.105031","url":null,"abstract":"","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105031"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145243962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Are NONO variants linked to congenital heart disease? Patient reports and review","authors":"Peiqing He ,&nbsp;Sini Zou ,&nbsp;Jianxiong Chen ,&nbsp;Meiyi Wang ,&nbsp;Peng Lin ,&nbsp;Jiwu Lou ,&nbsp;Zhanying Ma ,&nbsp;Zhen Li ,&nbsp;Tizhen Yan","doi":"10.1016/j.ejmg.2025.105060","DOIUrl":"10.1016/j.ejmg.2025.105060","url":null,"abstract":"<div><div>Pathogenic variants in the <em>NONO</em> gene (MIM #300084) are responsible for X-linked syndromic intellectual developmental disorder-34 (MRXS34, MIM #300967) characterized by macrocephaly, dysmorphic facial features, global developmental delay, hypotonia, heart anomalies, and mild structural brain abnormalities. This report describes a 3-month-old male and a 7-month-old female presenting with microcephaly, dysmorphic facial features, developmental delay, hypotonia, congenital heart defects, abnormal kidney ultrasound, and abnormal cranial MRI findings. The male exhibited left ventricular noncompaction (LVNC), while the female also had abdominal distension and chronic constipation. Whole-exome sequencing (WES) was employed to identify the causative variants. A systematic review of MRXS34 clinical phenotypes was also conducted. WES revealed a novel maternally inherited Xq13.1 hemizygous deletion, encompassing exons 6–13 of the <em>NONO</em> gene in the male, and a recurrent <em>de novo</em> heterozygous c.344G &gt; A (p.Arg115His) variant in <em>NONO</em> in the female. The latter demonstrated extreme X-chromosome inactivation (XCI) skewing. To date, 33 unrelated male cases of MRXS34 have been documented, and 27 <em>NONO</em> variants, have been identified worldwide. The phenotypes in our patients overlap with those previously reported or closely resemble those of MRXS34. Macrocephaly, corpus callosum anomalies, and LVNC exhibit relatively high penetrance but tend to worsen with age. Additionally, dysplastic pulmonary valve/pulmonary hypertension and recurrent chronic constipation episodes may be integral to an alternative <em>NONO</em>-related disorder. This study expands the phenotypic and allelic diversity of <em>NONO</em>-related disorder by providing further genotype-phenotype correlations from two additional cases. The co-occurrence of a <em>NONO</em> variant with extreme XCI skewing likely underpins the pathogenicity of this rare female case, which presents with severe phenotypes akin to those seen in male patients with MRXS34.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105060"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145488159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pathogenic variant in GATA4 associated with atrioventricular septal defect and congenital diaphragmatic hernia: A case report","authors":"John Howat ,&nbsp;Trisha Vigneswaran ,&nbsp;Aris Papageorghiou ,&nbsp;Sahar Mansour","doi":"10.1016/j.ejmg.2025.105059","DOIUrl":"10.1016/j.ejmg.2025.105059","url":null,"abstract":"<div><div>Pathogenic variants in <em>GATA4</em>, a transcription factor, are predominantly associated with congenital heart defects and gonadal abnormalities. We describe a case of a maternally inherited <em>GATA4</em> pathogenic variant (c.474C &gt; G p.[Tyr158Ter]) in a 21-week gestation fetus presenting with partial atrioventricular septal defect and congenital diaphragmatic hernia. Whilst there is a weight of evidence implicating GATA4 dysfunction in congenital diaphragmatic hernia, this is only the second report to our knowledge to identify a causative <em>GATA4</em> variant with congenital diaphragmatic hernia.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105059"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145502785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"COL12A1 gene mutation is associated with habitual patellar dislocation: a case report and literature review","authors":"Qinying Feng ,&nbsp;Chao Feng ,&nbsp;Xiaoyu Song ,&nbsp;Xinzhong Zhou ,&nbsp;Zhihao Chen","doi":"10.1016/j.ejmg.2025.105046","DOIUrl":"10.1016/j.ejmg.2025.105046","url":null,"abstract":"<div><div>Variants within COL12A1 have been associated with the occurrence and progression of a number of musculoskeletal disorders. Here, we report a case of patellar dislocation and limited mobility in a 13-year-old patient and genetic determination of the etiology of their condition utilizing diagnostic whole-exome sequencing. The patient underwent diagnostic whole-exome sequencing to look for pathogenic variants, which were classified using the ACMG classification standards. A heterozygous nucleotide variant (NM_004370.6: c.8179-2A &gt; G) in intron 53 of the COL12A1 gene was identified and resulted in a splicing abnormality deemed pathogenic. In conclusion, the heterozygous nucleotide variant in intron 53 of COL12A1 has been associated with patellar dislocation and limited mobility of the knee.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105046"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145058457","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cost-comparison of resequencing versus archival data methods for periodic reanalysis of genomic data in rare diseases diagnosis: A UK pilot analysis","authors":"Ravi Prabhakar More ,&nbsp;Dulika Sumathipala ,&nbsp;Helen Dolling ,&nbsp;Kate Downes ,&nbsp;Sarah Bowdin ,&nbsp;Joowook Ahn ,&nbsp;Stephen Morris ,&nbsp;David H. Rowitch","doi":"10.1016/j.ejmg.2025.105051","DOIUrl":"10.1016/j.ejmg.2025.105051","url":null,"abstract":"<div><div>Periodic reanalysis of genome sequence data in rare diseases to improve diagnostic rates is recommended every 18-months. However, cost can be a major consideration. We compared the cost of two reanalysis methods: (A) resequencing of stored DNA and (B) archived genome data. We selected 30 trios with diverse molecular diagnoses for reanalysis from the published Next Generation Children Project (NGC), which used whole genome sequencing (WGS) on a paediatric cohort from NICU/PICU. Of these, 29 trio samples passed the DNA QC, were re-sequenced (Method A), or their initial sequence data retrieved from archival (Method B) prior to gene diagnostic analysis. Both Methods A and B detected 100 % (41/41) of the known diagnostic variants, with assessors blinded to previous findings. We performed cost comparisons per trio and UK NHS rare diseases (NICU/PICU) cohort national scale including analysis and data storage costs. While re-sequenced WGS data showed a higher quality of Q30 reads (median 89.9 %) as compared to archived data (median 86.54 %), the cost per trio was £5021.17 and £2136.96, respectively (difference of £2884.21). Extrapolating to a national UK paediatric intensive care cohort (∼90K admissions per annum) with gene agnostic analysis, Method B yields significant cost savings, even with only one reanalysis. Periodic WGS reanalysis using archival data is as accurate as resequencing at a lesser cost per trio but at scale this requires federated archival data repositories.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105051"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145206000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-world performance of Face2Gene and GestaltMatcher for facial image analysis in a large Indian ethnic cohort","authors":"Shifali Gupta ,&nbsp;Pratibha Bawa ,&nbsp;Anu Kumari ,&nbsp;Inusha Panigrahi ,&nbsp;Priyanka Srivastava ,&nbsp;Anupriya Kaur","doi":"10.1016/j.ejmg.2025.105063","DOIUrl":"10.1016/j.ejmg.2025.105063","url":null,"abstract":"<div><h3>Background</h3><div>Face2Gene and GestaltMatcher are two artificial intelligence-based tools for facial image analysis and syndrome suggestion.</div></div><div><h3>Material and methods</h3><div>Frontal photographs of patients (one photograph per patient) with molecularly confirmed diagnosis were uploaded on Face2Gene and GestaltMatcher. The position at which the correct syndrome was listed, and the gestalt scores were noted. The top-3,10 and 30 accuracy was calculated.</div></div><div><h3>Results</h3><div>A total of 159 patient photographs of 72 different syndromes were analysed. The top-3 accuracy of Face2Gene vs GestaltMatcher was 77 % and 58 % and top-10 accuracy 85 % and 71 % respectively. GestaltMatcher could correctly identify in the top-10 category, 2 out of 7 (28.5 %) monogenic syndromes for which Face2Gene did not have a composite model. Both the tools performed significantly better for rare syndromes as compared to ultrarare syndromes. We also demonstrate through two of our cases the tools’ potential to support variant interpretation in clinical practice.</div></div><div><h3>Conclusion</h3><div>The combined use of Face2Gene and GestaltMatcher has a considerable potential to support the diagnostic decision process in routine clinical settings.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"78 ","pages":"Article 105063"},"PeriodicalIF":1.7,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145631644","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant","authors":"Yuya Tanaka ,&nbsp;Satoru Ikenoue ,&nbsp;Akihisa Ueno ,&nbsp;Yohei Masugi ,&nbsp;Mamiko Yamada ,&nbsp;Hisato Suzuki ,&nbsp;Toshimitsu Otani ,&nbsp;Marie Fukutake ,&nbsp;Yoshifumi Kasuga ,&nbsp;Kenjiro Kosaki ,&nbsp;Mamoru Tanaka","doi":"10.1016/j.ejmg.2025.105039","DOIUrl":"10.1016/j.ejmg.2025.105039","url":null,"abstract":"<div><div>Mirror syndrome is a rare obstetric condition characterized by maternal fluid retention mirroring fetal hydrops. Placental ectopic liver tissue is an extremely rare non-trophoblastic placental tumor, potentially arising from aberrant hepatoblast migration. While its association with fetal hydrops has been reported, the clinical significance remains uncertain. We present a patient of maternal mirror syndrome linked to fetal hydrops due to a <em>de novo SOS1</em> variant, with histopathological identification of placental ectopic liver tissue.</div><div>A 32-year-old woman was admitted at 31 weeks’ gestation with fetal hydrops, presenting with bilateral pleural effusions, ascites, and subcutaneous edema. Due to worsening maternal pleural effusion, she was transferred to our hospital at 31 weeks and 6 days. Given progressive maternal and fetal deterioration, an emergency cesarean section was performed at 32 weeks due to concerns regarding maternal mirror syndrome. The female infant was delivered with severe respiratory distress and succumbed at 9 days of age. Trio-based exome sequencing identified a <em>de novo</em> heterozygous <em>SOS1</em> variant (NM_005633.4:c.512T &gt; A [p.V171G]), confirming a postmortem diagnosis of Noonan syndrome. Histopathological analysis of the placenta revealed ectopic liver tissue within the villi, confirmed by positive immunostaining for hepatocyte markers. A recent report of <em>RIT1</em>-associated mirror syndrome and non-immune hydrops fetalis (NIHF) further supports the role of Rasopathies in the pathogenesis of mirror syndrome.</div><div>Our findings confirm that mirror syndrome is a potential manifestation of Rasopathies, while the role of ectopic liver tissue in the placenta remains uncertain. Future research should focus on genetic factors underlying mirror syndrome rather than incidental placental anomalies.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"77 ","pages":"Article 105039"},"PeriodicalIF":1.7,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144882483","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Further delineation of ERF-related Chitayat syndrome","authors":"Feng Zhu ,&nbsp;Yu Zhang ,&nbsp;Kaixuan Wang ,&nbsp;Chao-Chun Zou","doi":"10.1016/j.ejmg.2025.105038","DOIUrl":"10.1016/j.ejmg.2025.105038","url":null,"abstract":"<div><div>Chitayat syndrome (CHYTS) is an autosomal dominant disorder caused by variants in the ETS2 repressor factor (<em>ERF</em>) gene, located on 19q13.2. This gene encodes the ERF protein. The syndrome is extremely rare, with only 13 patients reported to date. We present a patient of CHYTS resulting from a c.1201_1202del (p.Lys401Glufs∗10) frameshift variant in the <em>ERF</em> (NM_001429.3) gene. The patient, a 10-year-old girl, exhibited typical features of the syndrome such as short stature, facial dysmorphism, and early developmental delay. She was treated with recombinant human growth hormone for ∼5 years due to her short stature. During treatment, no complications such as increased intracranial pressure, hypothyroidism, or pancreatic dysfunction were noted. However, the growth response was suboptimal, with a total height increase of 25.4 cm. This patient provides valuable insights into the clinical manifestations and treatment outcomes associated with <em>ERF</em>(NM_001429.3) gene variants, contributing to the existing knowledge and potentially aiding clinicians in understanding similar patients.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"77 ","pages":"Article 105038"},"PeriodicalIF":1.7,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144886567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autosomal recessive frameshift variant broadens HECW2-related disease spectrum","authors":"Reyhaneh Dehghanzad ,&nbsp;Yeganeh Eshaghkhani ,&nbsp;Mohammad Saberi ,&nbsp;Maryam Jamshidifar ,&nbsp;Parvaneh Karimzadeh ,&nbsp;Mohammad Keramatipour","doi":"10.1016/j.ejmg.2025.105036","DOIUrl":"10.1016/j.ejmg.2025.105036","url":null,"abstract":"<div><div>The <em>HECW2</em> gene encodes a HECT (homologous to E6-AP carboxy terminus)-type E3 ubiquitin ligase that plays a critical role in neurodevelopment. Pathogenic variants in <em>HECW2</em> are associated with a neurodevelopmental disorder characterized by hypotonia, seizures, and absent language (NDHSAL; OMIM #617268), typically inherited in an autosomal dominant pattern. However, recent evidence suggests that some variants in <em>HECW2</em> gene may cause the disease with autosomal recessive inheritance.</div><div>Here, we report a 6-year-old female proband of consanguineous Afghan descent who presented with severe microcephaly, hypotonia, failure to thrive, recurrent seizures, global neurodevelopmental delay, and brain MRI findings of significant cerebral and cerebellar atrophy. Whole-exome sequencing revealed a novel homozygous frameshift variant in <em>HECW2</em> (c.3601_3602insT, p.Y1201Lfs∗7, ClinVar: SCV006279594) in this patient. In silico analyses and Sanger validation confirmed the pathogenicity of this variant and its autosomal recessive inheritance, with both parents being heterozygous carriers but clinically unaffected. This frameshift variant likely results in nonsense-mediated decay (NMD) of the mRNA, suggesting a loss-of-function mechanism distinct from the mechanism implicated in missense variants that causing the disease with autosomal dominant inheritance.</div><div>This study expands the phenotype and genetic spectrum of <em>HECW2</em>-related disorders and highlights the importance of recognizing autosomal recessive inheritance patterns. The findings emphasize the need for comprehensive genetic analyses, especially in consanguineous populations, and underscore the value of considering null variants in HECW2 when evaluating severe neurodevelopmental phenotypes. Further studies exploring the molecular mechanisms of <em>HECW2</em> variants are essential to deepen our understanding of its role in neurodevelopment and refine diagnostic and therapeutic approaches.</div></div>","PeriodicalId":11916,"journal":{"name":"European journal of medical genetics","volume":"77 ","pages":"Article 105036"},"PeriodicalIF":1.7,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144842465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}