American Journal of Medical Genetics Part C: Seminars in Medical Genetics最新文献

Spectrum of Congenital Anomalies in Myhre Syndrome-Insights Into Effects Brought by Altered TGF-β Signaling via Gain-of-Function Variants in SMAD4. Myhre综合征先天性异常的频谱- TGF-β信号改变通过SMAD4的功能获得变体带来的影响的见解

IF 4.4 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2026-04-13 DOI: 10.1002/ajmg.c.70007

Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti-Pierri, Usha Kini

引用次数: 0

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors. 幼儿多重先天性关节挛缩的里程碑成就：发展概况和相关因素。

IF 4.4 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2026-03-16 DOI: 10.1002/ajmg.c.70006

Ahlam Zidan, Sophia C Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B Nossov, Philip F Giampietro, Thania Ordaz-Robles, Noémi Dahan-Oliel

{"title":"Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors.","authors":"Ahlam Zidan, Sophia C Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B Nossov, Philip F Giampietro, Thania Ordaz-Robles, Noémi Dahan-Oliel","doi":"10.1002/ajmg.c.70006","DOIUrl":"https://doi.org/10.1002/ajmg.c.70006","url":null,"abstract":"Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross-sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0-66 months from a pediatric AMC Registry. Development was assessed using the Ages and Stages Questionnaire, Third Edition (ASQ-3), across Communication, Gross Motor, Fine Motor, Problem-Solving, and Personal-Social domains. Independent variables included demographic, perinatal, clinical, and parental factors. Gross Motor function was the most limited domain, with more than 90% scoring close to/below the ASQ-3 domain-specific cutoff (≥ 2 SD below normative mean). Personal-Social scores were unexpectedly low, and Fine Motor limitations were also frequent, with 53.1% scoring close to/below the cutoff. Communication and Problem-Solving were relative strengths. Longer neonatal intensive-care unit stays were linked to poorer Communication and Fine Motor scores, and higher birth weight was associated with better Problem-Solving performance. Specific joint contractures, particularly those affecting the neck, shoulder, elbow, and knee, were associated with lower performance across domains, while higher parental education was related to better Personal-Social outcomes. Developmental attainment in AMC is shaped by interactions among musculoskeletal, perinatal, and family factors, underscoring the importance of early, coordinated orthopedic, developmental and family-centered interventions.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147462368","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

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents. Myhre综合征的治疗：目标、误解和当前的药物。

IF 4.4 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2026-03-16 DOI: 10.1002/ajmg.c.70008

Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti-Pierri

{"title":"Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents.","authors":"Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti-Pierri","doi":"10.1002/ajmg.c.70008","DOIUrl":"https://doi.org/10.1002/ajmg.c.70008","url":null,"abstract":"Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain-of-function pathogenic variants in the SMAD4 gene, a key player in TGF-β signaling and a regulator of extracellular matrix homeostasis. MYHRS is characterized by a progressive fibrotic phenotype affecting multiple organ systems, including the skeletal, cardiovascular, respiratory, and integumentary systems. MYHRS individuals often present with short stature, joint contractures, cardiac valve defects, subglottic stenosis, and skin thickening. Neurodevelopmental disorders, including autism spectrum disorder, may also occur. Despite the recurrent mutations, MYHRS individuals have significant phenotypic variability. Treatment for MYHRS is symptomatic, and no disease-modifying therapies are currently available. In this article, we discuss potential future therapies in MYHRS, such as TGF-β inhibitors, anti-fibrotic drugs, and gene editing approaches. Furthermore, we discuss unmet needs on clinical and biochemical endpoints that are critical for the investigation of new therapies.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147462366","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

Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation. Myhre综合征皮肤表现与组织病理学分析和基因型-表型相关性的综述。

IF 4.4 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2026-02-12 DOI: 10.1002/ajmgc.70005

Setu Mittal, Emma F Johnson, Lisa A Schimmenti, Nessa Aghazadeh Mohandesi

{"title":"Review of Cutaneous Manifestations in Myhre Syndrome With Histopathological Analyses and Genotype-Phenotype Correlation.","authors":"Setu Mittal, Emma F Johnson, Lisa A Schimmenti, Nessa Aghazadeh Mohandesi","doi":"10.1002/ajmgc.70005","DOIUrl":"https://doi.org/10.1002/ajmgc.70005","url":null,"abstract":"Myhre syndrome is a rare multisystem disorder characterized by distinctive facial features, hearing loss, and progressive fibrosis affecting the skin, joints, lungs, and cardiovascular system. It is caused by heterozygous pathogenic variants in the SMAD4 gene. In this review, we detail the cutaneous manifestations observed in two previously reported patients with genetically confirmed Myhre syndrome. While skin biopsies demonstrated pan-dermal thickening of collagen bundles, the immunohistochemical staining patterns were distinct from those seen in other inflammatory sclerosing disorders. Additionally, we conducted a comprehensive literature review of the cutaneous features associated with Myhre syndrome, identifying 175 patients with confirmed SMAD4 pathogenic variants. The most reported cutaneous finding was thickened or stiff skin (76%), followed by keratosis pilaris (22%) and impaired wound healing or abnormal scarring (18%). Genotype-phenotype analysis suggested a diagnostic delay in patients with the codon 496 variant, who were more frequently diagnosed in adulthood. This variant may also be associated with a milder cutaneous phenotype, highlighting the clinical heterogeneity of Myhre syndrome. These findings underscore the importance of recognizing cutaneous features as potential early diagnostic clues in patients with suspected Myhre syndrome.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146177241","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

Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation. 揭示Myhre综合征的机制谱：SMAD4信号中断，骨骼表型和转化创新。

IF 4.4 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2026-02-08 DOI: 10.1002/ajmgc.70004

Min Zhu, Fanyuan Zeng, Chu Zhu

{"title":"Unraveling the Mechanistic Spectrum of Myhre Syndrome: SMAD4 Signaling Disruption, Skeletal Phenotypes, and Translational Innovation.","authors":"Min Zhu, Fanyuan Zeng, Chu Zhu","doi":"10.1002/ajmgc.70004","DOIUrl":"https://doi.org/10.1002/ajmgc.70004","url":null,"abstract":"Myhre syndrome (MYHRS) is an ultra-rare, progressive multisystem disorder caused by recurrent heterozygous missense variants in the SMAD4 gene, a central mediator of TGF-β and BMP signaling. Skeletal abnormalities-including postnatal short stature, brachydactyly, thickened calvarium, and craniofacial dysmorphism-are cardinal features, often accompanied by joint contractures and progressive soft tissue fibrosis. Extensive cellular and genetic evidence supports a gain-of-function (GoF) mechanism wherein mutant SMAD4 displays increased protein stability and prolonged nuclear localization, enhancing canonical SMAD signaling and driving overexpression of profibrotic and extracellular matrix (ECM) genes. Although a dominant-negative (DN) effect was recently proposed for some variants, GoF remains the prevailing and best-supported model. The underlying skeletal pathophysiology likely reflects both primary disruption of mesenchymal differentiation affecting bone and cartilage, and secondary progressive fibrosis that amplifies contractures and skeletal rigidity over time, though direct mechanistic studies in bone tissue remain limited. Therapeutically, TGF-β pathway inhibitors such as losartan exhibit promising in vitro and early clinical benefits, while advanced strategies-spanning targeted small molecules, anti-fibrotic agents, and emerging gene-editing approaches-are prospective direction for therapies. The integration of patient-derived iPSC models engineered animal systems, multi-modal technologies, and artificial intelligence (AI) holds significant promise for precision medicine in Myhre syndrome.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2026-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146140857","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

Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies. 中枢神经系统异常胎儿RNU4-2变异的产前评估

IF 4.4 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-12-25 DOI: 10.1002/ajmgc.70002

Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li

{"title":"Prenatal Evaluation of RNU4-2 Variants in Fetuses With Central Nervous System Anomalies.","authors":"Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li","doi":"10.1002/ajmgc.70002","DOIUrl":"10.1002/ajmgc.70002","url":null,"abstract":"Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4-2, a non-coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant neurodevelopmental disorder termed ReNU syndrome. While its postnatal phenotype has been well characterized, the contribution of RNU4-2 to fetal CNS anomalies remains unexplored. In this study, we retrospectively analyzed 148 fetuses with CNS anomalies who had non-diagnostic results from karyotyping, chromosomal microarray analysis, and exome sequencing. Targeted Sanger sequencing of RNU4-2 was performed to identify pathogenic variants. Two fetuses harbored the same de novo recurrent variant, n.64_65insT, corresponding to a diagnostic yield of 1.35%. Both cases presented with microcephaly, suggesting that it is a key prenatal feature of ReNU syndrome. Furthermore, molecular confirmation of RNU4-2 resolved a decade-long diagnostic odyssey in one family by excluding an inherited Xp22.13 duplication of uncertain significance as the causal variant. In conclusion, this study provides the first systematic prenatal evaluation of RNU4-2 in fetuses with CNS anomalies, thereby expanding the prenatal phenotypic spectrum of ReNU syndrome. Incorporating RNU4-2 testing into prenatal genetic workflows may enhance diagnostic yield, enable precise genetic counseling, and support informed reproductive decision-making.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-12-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145832170","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

Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review. 常染色体显性遗传重塑Myhre综合征的生殖咨询：一个新家族和文献综述。

IF 4.4 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-12-07 DOI: 10.1002/ajmg.c.32161

Maggie R Brand, Eva Vanbelleghem, Alison C Kay, Anne Goriely, Senol Demir, Peter J Hulick, Breanne Prindeville, Ashley W Wong, Bert Callewaert, Angela E Lin

{"title":"Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review.","authors":"Maggie R Brand, Eva Vanbelleghem, Alison C Kay, Anne Goriely, Senol Demir, Peter J Hulick, Breanne Prindeville, Ashley W Wong, Bert Callewaert, Angela E Lin","doi":"10.1002/ajmg.c.32161","DOIUrl":"https://doi.org/10.1002/ajmg.c.32161","url":null,"abstract":"Myhre syndrome is a rare disorder that typically results from a de novo SMAD4 variant. De novo SMAD4 variants have recently been shown to be associated with 'selfish selection' in the male germline, explaining their exclusive paternal origin and the paternal age effect reported for Myhre syndrome. Over recent years, there has been a steady increase in the number of families reported with an affected parent and child. We expand the literature of families with Myhre syndrome reporting a mildly affected 38-year-old mother and her 4-year-old son who carry the SMAD4 p.Arg496Cys variant, consistent with all other reports of inherited Myhre syndrome. To better delineate the phenotypic spectrum, we developed a clinical severity score and compared familial cases to sporadic cases, revealing a milder phenotype in familial cases. Affected mothers with Myhre syndrome may be at increased risk of infertility and pregnancy loss. Since identification of the mode of transmission is essential for accurate reproductive counseling and appropriate clinical surveillance, we propose a nuanced reproductive and genetic counseling strategy that emphasizes awareness of potential autosomal dominant transmission, paternal age-related risk, and obstetric complications.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145699518","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

Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology. 对两名患有Myhre综合征的女性进行的详细尸检阐明了SMAD4功能获得的病理生理特征。

IF 4.4 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-12-03 DOI: 10.1002/ajmg.c.32158

Katelyn Dannheim, Grant Eilers, Nathan C Page, Shipra Garg, Kelsie Anderson, Elizabeth Colglazier, Claire Parker, David F Teitel, Henry C Sanchez, Ryan Sidebottom, Brandon Abbott, Jasmine L Knoll, Maggie R Brand, Hongmei Mou, Mark E Lindsay, Angela E Lin

{"title":"Detailed Autopsies Performed on Two Females With Myhre Syndrome Elucidate Features of SMAD4 Gain-of-Function Pathophysiology.","authors":"Katelyn Dannheim, Grant Eilers, Nathan C Page, Shipra Garg, Kelsie Anderson, Elizabeth Colglazier, Claire Parker, David F Teitel, Henry C Sanchez, Ryan Sidebottom, Brandon Abbott, Jasmine L Knoll, Maggie R Brand, Hongmei Mou, Mark E Lindsay, Angela E Lin","doi":"10.1002/ajmg.c.32158","DOIUrl":"https://doi.org/10.1002/ajmg.c.32158","url":null,"abstract":"Pathologic studies of Myhre syndrome (OMIM 139201) have provided modest insights into this ultra-rare multisystem disorder, with postmortem examinations being scarce. Morbidity is related to severe congenital heart defects, aortic hypoplasia, airway stenosis, constrictive pericarditis, and restrictive cardiomyopathy. We report two detailed autopsies: the first of an 8-year-old female who succumbed to congenital mitral valve disease and restrictive cardiopulmonary complications. Autopsy documented chronic pericarditis and fibrosing pleuritis, diffuse interstitial pulmonary fibrosis, extensive submucosal interstitial fibrosis of the bladder, and nodular medial hypertrophy of the aorta. The second patient was a 20-year-old female with progressive laryngo-tracheal stenosis, interstitial lung disease, pericardial and peritoneal adhesions, and dermal fibrosis. Both patients had ovarian fibrosis with reduced oocytes. Neuropathologic examination revealed brains below expected weight with hypoxic-ischemic injury. The first patient also had scattered intraparenchymal microcalcifications and a known Chiari I malformation, and the second had a thickened calvarium and dura mater and rounded cerebrum (shortened frontal and occipital lobes). These two patients demonstrate the value of postmortem examination to confirm suspected pathology and elucidate new features. The pleiotropy of Myhre syndrome was demonstrated by complex comorbidities and the devastating impact of indiscriminate fibrosis. Counseling regarding the role of postmortem examination should be considered in the palliative care of Myhre syndrome patients and their families.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145666648","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

Evaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment. 3例女性Myhre综合征中、下面部评价：主观评价的客观补充。

IF 4.4 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-11-21 DOI: 10.1002/ajmg.c.32160

Mohammad Mousavian, Maggie Brand, Angela E Lin, Zachary S Peacock

{"title":"Evaluation of the Mid and Lower Face in Three Females With Myhre Syndrome: Objective Methods to Supplement Subjective Assessment.","authors":"Mohammad Mousavian, Maggie Brand, Angela E Lin, Zachary S Peacock","doi":"10.1002/ajmg.c.32160","DOIUrl":"https://doi.org/10.1002/ajmg.c.32160","url":null,"abstract":"Myhre syndrome is associated with a recognizable pattern of facial differences that develop after early childhood. Patients typically have midface hypoplasia, mandibular prognathism, narrow oral commissures with a short philtrum and thin upper lip vermillion. Other characteristics include deeply set eyes with short palpebral fissures, and small, widely spaced teeth. The aim of this study is to review the concept of prognathism in Myhre syndrome, describe the oral and maxillofacial surgery (OMS) evaluation of three females, and provide some preliminary data to propose more objective guidelines and diagnostic tools for facial evaluation in other patients. In addition to the dysmorphologic examination, maxillofacial imaging is recommended in many patients to evaluate the dentition, midface and mandibular anatomy. An orthopantomogram is useful to visualize the dentition, alveolar portion of the maxilla and the mandible. A lateral cephalogram can assess jaw relationships and allow cephalometric analyses to compare to published norms. With the common characteristics visualized, a checklist has been developed to serve as a guide when evaluating patients. OMS consultation can enhance the care provided by the medical geneticists who usually manage these individuals.","PeriodicalId":7445,"journal":{"name":"American Journal of Medical Genetics Part C: Seminars in Medical Genetics","volume":" ","pages":""},"PeriodicalIF":4.4,"publicationDate":"2025-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145572885","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

Table of Contents, Volume 199, Number 2, June 2025 目录，第199卷，第2号，2025年6月

IF 4.4 3区医学

American Journal of Medical Genetics Part C: Seminars in Medical Genetics Pub Date : 2025-11-14 DOI: 10.1002/ajmg.c.32092

引用次数: 0