Clinical Genetics最新文献_第10页

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies 葡萄牙眼科学会和葡萄牙人类遗传学学会遗传性视网膜营养不良基因检测联合临床实践指南。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2025-01-02 DOI: 10.1111/cge.14691

João Pedro Marques, Célia Azevedo Soares, Ana Luísa Carvalho, Sérgio Estrela-Silva, Luísa Coutinho Santos, Lina Ramos, Eduardo Silva

{"title":"Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies","authors":"João Pedro Marques, Célia Azevedo Soares, Ana Luísa Carvalho, Sérgio Estrela-Silva, Luísa Coutinho Santos, Lina Ramos, Eduardo Silva","doi":"10.1111/cge.14691","DOIUrl":"10.1111/cge.14691","url":null,"abstract":"The Portuguese Society of Ophthalmology and the Portuguese Society of Human Genetics developed clinical practice guidelines to streamline genetic testing for inherited retinal dystrophies (IRDs), underlining the critical role of molecular diagnosis in enhancing patient care. Genetic testing is pivotal in diagnosis, genetic counselling, prognosis and access to clinical trials, and new gene-specific therapies. These guidelines recommend genetic testing in all IRD patients and provide a detailed assessment of available testing methods, ensuring that genetic counselling is integrated into ophthalmic care. Essential to this process is the inclusion of at least one genetic counselling session to effectively communicate and discuss implications of test results with patients and families/carers. Key recommendations include cascade testing to identify at-risk family members and standardisation of variant classification according to international criteria to ensure consistency in diagnosis and care. Ophthalmological follow-up is generally prescribed at intervals of 1–2 years for adults and 6 months for paediatric patients, to monitor disease progression and complications. Paediatric considerations are addressed, reflecting the complexities and ethical concerns associated with testing minors. These guidelines aim to elevate diagnostic accuracy, guide therapeutic decisions and ultimately improve patient outcomes, marking a significant advance in the genetic management of IRDs.","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 6","pages":"600-611"},"PeriodicalIF":2.9,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cge.14691","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142913105","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review 29例brpf1相关疾病的表型和基因型谱及文献综述

IF 2.9 3区医学

Clinical Genetics Pub Date : 2024-12-29 DOI: 10.1111/cge.14688

Cindy Colson, Marine Tessarech, Elise Boucher-Brischoux, Odile Boute-Benejean, Catherine Vincent-Delorme, Clémence Vanlerberghe, Simon Boussion, Justine Le Cunff, Bénédicte Duban-Bedu, Laurence Faivre, Christel Thauvin, Christophe Philippe, Ange-Line Bruel, Frédéric Tran Mau-Them, Clara Houdayer, Gaetan Lesca, Audrey Putoux, Jonathan Lévy, Olivier Patat, Marlène Rio, Jamal Ghoumid, Thomas Smol

{"title":"The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review","authors":"Cindy Colson, Marine Tessarech, Elise Boucher-Brischoux, Odile Boute-Benejean, Catherine Vincent-Delorme, Clémence Vanlerberghe, Simon Boussion, Justine Le Cunff, Bénédicte Duban-Bedu, Laurence Faivre, Christel Thauvin, Christophe Philippe, Ange-Line Bruel, Frédéric Tran Mau-Them, Clara Houdayer, Gaetan Lesca, Audrey Putoux, Jonathan Lévy, Olivier Patat, Marlène Rio, Jamal Ghoumid, Thomas Smol","doi":"10.1111/cge.14688","DOIUrl":"10.1111/cge.14688","url":null,"abstract":"Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge. New phenotypic features identified include palpebral oedema, laterally elongated eyebrows, low hanging columella and hypertrichosis. Neuropsychological assessment reveals a predominance of mild to moderate ID, with cognitive profiles showing variability in verbal and visual processing. Structural abnormalities such as agenesis of the corpus callosum and ocular defects were noted, consistent with previous studies but with some differences. Familial analysis revealed variability in clinical expression. Our findings highlight the diverse clinical manifestations of BRPF1-related disorders and suggest that comprehensive ophthalmological evaluation is essential for the management of these patients.","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 5","pages":"527-540"},"PeriodicalIF":2.9,"publicationDate":"2024-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cge.14688","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143001302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The Value of ROH Metrics for Predicting Morbidity: Insights From a Large Cohort Analysis of Chromosomal Microarray 预测发病率的ROH指标的价值：来自染色体微阵列大队列分析的见解。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2024-12-27 DOI: 10.1111/cge.14686

Lena Sagi-Dain, Michal Levy, Reut Matar, Sarit Kahana, Ifaat Agmon-Fishman, Cochava Klein, Merav Gurevitch, Lina Basel-Salmon, Idit Maya

{"title":"The Value of ROH Metrics for Predicting Morbidity: Insights From a Large Cohort Analysis of Chromosomal Microarray","authors":"Lena Sagi-Dain, Michal Levy, Reut Matar, Sarit Kahana, Ifaat Agmon-Fishman, Cochava Klein, Merav Gurevitch, Lina Basel-Salmon, Idit Maya","doi":"10.1111/cge.14686","DOIUrl":"10.1111/cge.14686","url":null,"abstract":"<div>\u0000 \u0000 This retrospective cohort study aimed to define the optimal Regions of Homozygosity (ROH) size cut-offs for prediction of morbidity, based on 13 483 Chromosomal Microarray Analyses (CMA). Receiver operating characteristic (ROC) curves were generated, and area under the curve (AUC) was used to assess the predictive capability of total ROH percentage (TRPS), ROH number and ROH segment size in distinguishing between healthy (n=6,196) and affected (n=6,839) cohorts. The metrics were examined for telomeric and interstitial segments, distinct TRPS categories, and across different ancestral origins. ROH segments were identified in 13 035 samples (96.7%), encompassing 66 710 ROH segments. Significant differences in TRPS and ROH segment size were observed between healthy and affected cohorts (p=0.012 and p < 0.001, respectively). However, no clinically significant thresholds could be established based on ROC curves for TRPS and ROH number per sample, as well as for ROH size (AUC 0.64, 0.55, and 0.62, respectively, Figure 1). The same was noted for telomeric versus interstitial locations, various origins, and subcategories of TRPS. In conclusion, this study highlights the complexity of ROH interpretation and emphasizes the importance of tailored reporting strategies in clinical practice. Our findings underscore the need for context-specific reporting guidelines and further research, particularly in consanguineous populations.\u0000 </div>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 5","pages":"511-516"},"PeriodicalIF":2.9,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease 土耳其队列中肾纤毛病的变异谱和基因型-表型相关性，特别是常染色体显性多囊肾病。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2024-12-27 DOI: 10.1111/cge.14687

Pelin Ercoskun, Aydeniz Aydin Gumus, Ezgi Gokpinar Ili, Lale Yilmaz Celik, Mustafa Dogan, Sevgi Yavuz, Gursel Yildiz, Alper Gezdirici

{"title":"Variant Spectrum of Renal Ciliopathies in Turkish Cohort and Genotype–Phenotype Association Specifically in Autosomal Dominant Polycystic Kidney Disease","authors":"Pelin Ercoskun, Aydeniz Aydin Gumus, Ezgi Gokpinar Ili, Lale Yilmaz Celik, Mustafa Dogan, Sevgi Yavuz, Gursel Yildiz, Alper Gezdirici","doi":"10.1111/cge.14687","DOIUrl":"10.1111/cge.14687","url":null,"abstract":"<div>\u0000 \u0000 Renal ciliopathies are a genetically and phenotypically heterogeneous group of diseases characterized by cystic and dysplastic kidneys. The aim of this study was to investigate the correlation between genetic changes that cause renal ciliopathies and phenotypic outcomes. The study group consisted of 137 patients diagnosed with renal ciliopathy disease. One hundred nineteen patients had ADPKD phenotype, 7 patients had ARPKD phenotype, 4 patients had nephronophthisis, 1 patient had Senior-Loken syndrome, 4 patients had Bardet-Biedl syndrome, 1 patient had Joubert syndrome and 1 patient had Meckel Gruber syndrome phenotype. Among patients with autosomal dominant polycystic kidney disease, patients with the PKD1 gene mutation had higher creatinine levels (p value: 0.020) and no arachnoid cysts were revealed in the PKD2 group (p value: 0.014). When the domains were compared, the finding of arachnoid cyst in patients with mutations in the transmembrane domain was statistically significant (p value: 0.021). Homozygous likely pathogenic variant in the TCTN1 gene was reported in a fetus who had findings of Meckel-Gruber syndrome; microphthalmia and cardiac hypoplasia were reported as novel findings. As a conclusion, we identified variant spectrum of renal ciliopathies in Turkish cohort and revealed the association between the transmembrane domain and arachnoid cyst.\u0000 </div>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 5","pages":"517-526"},"PeriodicalIF":2.9,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity 第三例PAICS缺陷患者p.（Lys53Arg）复发变异的鉴定，扩大了表型多样性

IF 2.9 3区医学

Clinical Genetics Pub Date : 2024-12-26 DOI: 10.1111/cge.14681

Simon Boussion, Madeleine Aumar, Antoine Hutt, Damien Fron, Pierre Fayoux, Jamal Ghoumid, Frédéric Gottrand, Thomas Smol

{"title":"Identification of the Third Patient With PAICS Deficiency Harbouring the p.(Lys53Arg) Recurrent Variant, Extending the Phenotype Diversity","authors":"Simon Boussion, Madeleine Aumar, Antoine Hutt, Damien Fron, Pierre Fayoux, Jamal Ghoumid, Frédéric Gottrand, Thomas Smol","doi":"10.1111/cge.14681","DOIUrl":"10.1111/cge.14681","url":null,"abstract":"<div>\u0000 \u0000 Phosphoribosylaminoimidazole carboxylase (PAICS) deficiency, caused by biallelic variants in PAICS gene, is an inborn error of de novo purine synthesis. Only two patients from a consanguineous family have been reported, with multiple congenital malformations, resulting in early neonatal death. Molecular analysis identified a homozygous p.(Lys53Arg) missense variant. We report the third case of PAICS deficiency in a 7 years old boy, presenting with polymalformative syndrome, but normal neurodevelopment. We report malformations not previously described in PAICS deficiency, notably congenital cardiopathy, and support the consistency of skeletal and oesophageal defects. Genome Sequencing identified the homozygous pathogenic variant p.(Lys53Arg), suggesting a recurrent variant in PAICS. A probable recurrence of PAICS deficiency occurred in a sibling, with a similar polymalformative syndrome antenatally diagnosed, but could not be confirmed molecularly. We further delineate the phenotype of PAICS deficiency and provide new insights concerning prognosis, notably in terms of neurodevelopment.\u0000 </div>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 5","pages":"564-569"},"PeriodicalIF":2.9,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892720","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Biallelic Loss of Function Variant in SEC31A Is Associated With Lethal Neurodevelopmental Disorder, Dysmorphic Features, and Skeletal Defects SEC31A双等位基因功能变异缺失与致死性神经发育障碍、畸形特征和骨骼缺陷相关

IF 2.9 3区医学

Clinical Genetics Pub Date : 2024-12-26 DOI: 10.1111/cge.14680

Naif A. M. Almontashiri, Aziza Mushiba, Haya Alruqi, Essa Alharby, Jamil Amjad Hashmi

引用次数: 0

Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome Coffin Siris综合征的下一代表型和合成面孔。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2024-12-26 DOI: 10.1111/cge.14682

Quentin Hennocq, Olivier Lienhard, Dipesh Rao, Jeanne Amiel, Ludovic Benichou, Thomas Bongibault, Ana-Julia Bravo Hidalgo, Valérie Cormier-Daire, Stanislas Lyonnet, Arnaud Picard, Marlène Rio, Ahmed Zaiter, Nicolas Garcelon, Tinatin Tkemaladze, Roman H. Khonsari

{"title":"Next Generation Phenotyping and Synthetic Faces in Coffin Siris Syndrome","authors":"Quentin Hennocq, Olivier Lienhard, Dipesh Rao, Jeanne Amiel, Ludovic Benichou, Thomas Bongibault, Ana-Julia Bravo Hidalgo, Valérie Cormier-Daire, Stanislas Lyonnet, Arnaud Picard, Marlène Rio, Ahmed Zaiter, Nicolas Garcelon, Tinatin Tkemaladze, Roman H. Khonsari","doi":"10.1111/cge.14682","DOIUrl":"10.1111/cge.14682","url":null,"abstract":"<div>\u0000 \u0000 Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS. After automatic placement of landmarks, geometric features extraction using procrustes superimposition, and textural features using a gray-level co-occurrence matrix (GLCM), we incorporated age, gender, and ethnicity and used XGboost (eXtreme Gradient Boosting) for classification. An independent validation set of confirmed CSS cases from centers in Bangalore (India) and Tbilissi (Georgia) was used. We then tested for differences between genotype groups. Finally, we introduced a new approach for generating synthetic faces of children with CSS. The training set included over 196 photographs from our center, corresponding to 58 patients (29 controls, 29 CSS). We distinguished CSS from controls in the independent validation group with an accuracy of 90.0% (73.5%–97.9%, p = 0.001). We found no facial shape difference between the different genotypes.\u0000 </div>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 5","pages":"495-504"},"PeriodicalIF":2.9,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant 遗传性痉挛性截瘫与AIMP1错义变体的异常剪接有关。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2024-12-26 DOI: 10.1111/cge.14690

Sara Morais, José Leal Loureiro, Eva Brandão, Jorge Sequeiros, Giovanni Stevanin, Mariana Santos

{"title":"Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant","authors":"Sara Morais, José Leal Loureiro, Eva Brandão, Jorge Sequeiros, Giovanni Stevanin, Mariana Santos","doi":"10.1111/cge.14690","DOIUrl":"10.1111/cge.14690","url":null,"abstract":"<div>\u0000 \u0000 Hereditary spastic paraplegias (HSP) are a diverse group of neurodegenerative diseases characterized by lower limb spasticity and weakness. To date, over 80 genes have been associated with HSP, but many families remain without a molecular diagnosis.\u0000 In this study, linkage analysis and whole-exome sequencing (WES) were performed to identify the causal gene in a HSP family with autosomal recessive inheritance. Multipoint linkage analysis revealed a maximum significant multipoint LOD score of 4.6 on chromosome 4. WES analysis focused on this region led to the identification of a homozygous missense variant in AIMP1 (c.223G>A). Minigene assays showed that the presumed missense variant in AIMP1 caused loss of the exon 3 donor splice site. Ultimately, this led to the use of an alternative splice site within the intron and the insertion of a premature stop codon.\u0000 The identification of a novel AIMP1 causal variant contributes to the growing list of HSP genes. Furthermore, it shows that, considering also previous reported cases, disruption of AIMP1 causes a spectrum of disorders ranging from intellectual disability to more complex neurodegenerative diseases.\u0000 </div>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 6","pages":"668-672"},"PeriodicalIF":2.9,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Risk Factors Associated With Leber Hereditary Optic Neuropathy due to Rare Mutations in Mitochondrial DNA-Encoded Respiratory Complex I Subunits 线粒体dna编码呼吸复合体I亚基罕见突变与Leber遗传性视神经病变相关的危险因素

IF 2.9 3区医学

Clinical Genetics Pub Date : 2024-12-23 DOI: 10.1111/cge.14683

Pilar Bayona-Bafaluy, Javier Sanz-Pons, Olivia Esteban, Luca Bueno-Borghi, Eduardo Ruiz-Pesini

引用次数: 0

Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice 转录本分析在临床遗传学日常实践中的有效性和影响。

IF 2.9 3区医学

Clinical Genetics Pub Date : 2024-12-21 DOI: 10.1111/cge.14684

Giovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, Eliana Zacchi, Sara Calabrese, Isabelle Bacchi, Flavia Palombo, Sara Taormina, Cecilia Evangelisti, Giulia Lanzoni, Valerio Carelli, Chiara Diquigiovanni, Simona Ferrari, Emanuele Panza, Cesare Rossi, Alessandro Vaisfeld, Elena Bonora, Daniela Turchetti

{"title":"Effectiveness and Impact of Transcript Analysis in Clinical Genetics Daily Practice","authors":"Giovanni Innella, Emanuele Coccia, Carlotta Pia Cristalli, Eliana Zacchi, Sara Calabrese, Isabelle Bacchi, Flavia Palombo, Sara Taormina, Cecilia Evangelisti, Giulia Lanzoni, Valerio Carelli, Chiara Diquigiovanni, Simona Ferrari, Emanuele Panza, Cesare Rossi, Alessandro Vaisfeld, Elena Bonora, Daniela Turchetti","doi":"10.1111/cge.14684","DOIUrl":"10.1111/cge.14684","url":null,"abstract":"Broad-spectrum genetic tests often lead to the identification of variants of uncertain significance (VUS), a major issue in modern clinical genetics. A fair proportion of VUS may alter the splicing processes, but their interpretation is challenging. This study aimed at providing a classification approach for VUS potentially-affecting splicing by integrating transcript analysis from peripheral blood mRNA into routine diagnostics. VUS in DICER1, MSH2, MLH1, DYNC1H1, RPS6KA3, and SCN9A, found in patients with phenotypes compatible with the related syndromes, altered splicing, leading to their re-classification as Pathogenic/Likely Pathogenic. This had a significant clinical impact for different diseases, from hereditary tumor predisposition to neurological and congenital syndromic disorders. Transcript analysis is valuable in VUS clinical evaluation, and its incorporation into routine diagnostic workflows facilitates timely and accurate clinical decision-making.","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 5","pages":"570-575"},"PeriodicalIF":2.9,"publicationDate":"2024-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/cge.14684","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142871528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0