American Journal of Medical Genetics Part A最新文献_第6页

Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism. 由MED12L的杂合变异体引起的Nizon-Isidor综合征病例系列，进一步证明了一例二倍体-三倍体嵌合体的有丝分裂不稳定性。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-21 DOI: 10.1002/ajmg.a.64233

Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley McMinn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Thomas Cassini

{"title":"Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism.","authors":"Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley McMinn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Thomas Cassini","doi":"10.1002/ajmg.a.64233","DOIUrl":"https://doi.org/10.1002/ajmg.a.64233","url":null,"abstract":"Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney. Genome sequencing (GS) revealed a MED12L variant, NM_053002.5:c.3559+2T>G. Both computational models and transcriptomic analysis confirmed that this variant induced splice loss of MED12L exon 25. Probands 2 and 3 presented with overlapping phenotypes of developmental delay; sequencing confirmed c.3441_3444dup; p.(G1149Nfs*13) and seq[GRCh37] del(3)(q25.1q25.1) chr3:g.?_151075120 variants affecting MED12L. Further investigation found diploid-triploid mosaicism in Proband 1, supporting the hypothesis that loss of MED12L function may increase risk for other cytogenetic abnormalities. Probands 2 and 3 did not harbor evidence of additional cytogenetic aberrations. In Proband 1, caloric restriction and semaglutide-pramlintide combination therapy were started at age eight and were effective in weight reduction. Overall, this report expands the phenotypic spectrum of Nizon-Isidor syndrome, highlights a potential link between MED12L and cytogenetic abnormalities, and demonstrates a case of weight loss through GLP-1 therapy in a child with a genetic obesity syndrome.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64233"},"PeriodicalIF":1.7,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Countrywide Variables Associated With the Reduction of Fetuses With Down Syndrome. 全国范围内与唐氏综合症胎儿减少相关的变量。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-21 DOI: 10.1002/ajmg.a.64228

Petrus H F M van Casteren, Gert de Graaf, Frank Buckley, Brian G Skotko

{"title":"Countrywide Variables Associated With the Reduction of Fetuses With Down Syndrome.","authors":"Petrus H F M van Casteren, Gert de Graaf, Frank Buckley, Brian G Skotko","doi":"10.1002/ajmg.a.64228","DOIUrl":"https://doi.org/10.1002/ajmg.a.64228","url":null,"abstract":"In this study, we sought to analyze the associations of global macroeconomic policy decisions on live births with Down syndrome (DS). As countries made prenatal screening more available and financially covered by their governments, we modeled the impact on the \"reduction percentage\" for DS-that is, the percentage of fetuses with DS that were not born as a consequence of selective terminations. The log-odds of the reduction in live births of children with DS (due to selective abortion) were estimated using maternal age-based prevalence models and actual birth data. These log-odds were then predicted using independent variables, including the availability and reimbursement of prenatal screening, maternal age, Gross National Income per capita, and country-specific effects. Data were analyzed using least squares regression with robust standard errors and model validation. When there is a full change from \"no availability of screening\" to \"serum screening available and reimbursed,\" we observed a large effect on the reduction percentage (OR = 3.24, p = 0.0001). If a country, whose baseline reduction percentage was 5%, 25%, or 50%, were to make this policy switch, then the reduction would be expected to increase to about 15%, 52%, and 76%, respectively, when all other variables are held constant. Increases in maternal age and Gross National Income also were associated with increased reduction percentages. If a country were to expand the availability or reimbursement of prenatal screening for DS, while all other factors are constant, that country should also expect to have fewer live births with DS as a consequence.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64228"},"PeriodicalIF":1.7,"publicationDate":"2025-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144938842","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan. 目前日本18三体儿童心脏手术的全国概况

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-20 DOI: 10.1002/ajmg.a.64232

Shintaro Nemoto, Hisateru Tachimori, Tomoki Kosho, Kanta Kishi, Noboru Motomura, Yasutaka Hirata

{"title":"Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan.","authors":"Shintaro Nemoto, Hisateru Tachimori, Tomoki Kosho, Kanta Kishi, Noboru Motomura, Yasutaka Hirata","doi":"10.1002/ajmg.a.64232","DOIUrl":"10.1002/ajmg.a.64232","url":null,"abstract":"Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of 78,179 cardiothoracic surgeries performed for children with congenital heart disease were registered in the Japan Cardiovascular Surgery Database Congenital Section from 2013 to 2021. Of these, 789 (1.0%) surgeries were performed for 502 children with trisomy 18 with increasing yearly trends. Of these, 490 cases (96.1%) of mild-to-moderate cardiac lesions underwent simple surgery, whereas 600 closed-heart surgeries accounted for 76.0%. Approximately 19.4% of the cases were associated with noncardiac lesions that led to postoperative complications at a frequency of 35.3%, whereas cardiac-related postoperative complications accounted for 30.5%. Severe infections occurred postoperatively in approximately 9% of the cases. Forty-two (8.4%) patients died in-hospital, of which the most common cause was heart-related, followed by respiratory-related and infection. This nationwide database analysis may provide valuable information that may serve as a benchmark and enable us to better define the patient attributes that will maximize the effectiveness of cardiac surgery for the vulnerable children.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64232"},"PeriodicalIF":1.7,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144881824","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Parental Experiences of Receiving a Rare Genetic Disease Diagnosis for Their Child on Diagnosis Day. 在诊断日为孩子接受罕见遗传病诊断的父母经历。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-17 DOI: 10.1002/ajmg.a.64223

Isabel Bullock, Kristen Fishler Malone, Abigail Turnwald

{"title":"Parental Experiences of Receiving a Rare Genetic Disease Diagnosis for Their Child on Diagnosis Day.","authors":"Isabel Bullock, Kristen Fishler Malone, Abigail Turnwald","doi":"10.1002/ajmg.a.64223","DOIUrl":"https://doi.org/10.1002/ajmg.a.64223","url":null,"abstract":"Literature exploring the experiences of parents of children with rare genetic conditions on \"Diagnosis Day,\" the day a diagnosis is given, is limited. We created a survey to further explore these experiences. Parents of children with rare genetic conditions 18 years or younger were recruited through rare disease organizations and social media. Seven hundred and seventeen participants, representing 229 rare diseases, met the inclusion criteria. Most parents received their child's diagnosis in person. Other parents received the diagnosis by phone or telehealth. Most parents (73%) were satisfied with where the diagnosis was given. Parents experienced a range of emotions on Diagnosis Day, most commonly hopelessness, sadness, confusion, and relief. With a longer time to diagnosis, participants reported more positive emotions and fewer negative emotions (p < 0.001). The information parents considered most important on Diagnosis Day included details about quality of life, medical management, inheritance, and connecting with other families. Nearly half of parents felt that providers could have done something different when delivering the diagnosis, including providing specific information on the diagnosis, asking parents to decide where results are given, asking about including other family members, and providing compassion and empathy. Together, these findings can be used to improve the Diagnosis Day experience for parents.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64223"},"PeriodicalIF":1.7,"publicationDate":"2025-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144870868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Novel Compound Heterozygous Missense Variants in RPL3L Gene Associated With Neonatal Dilated Cardiomyopathy. 与新生儿扩张型心肌病相关的新型RPL3L基因复合杂合错义变异。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-17 DOI: 10.1002/ajmg.a.64225

Xianghong Zhang, Tingting Wen, Hongyu Chen, Ziyi Jiang, Weizhong Gu, Weihua Yuan, Fengxia Li, Shanshan Shi, Qiang Shu, Lan Yu

{"title":"Novel Compound Heterozygous Missense Variants in RPL3L Gene Associated With Neonatal Dilated Cardiomyopathy.","authors":"Xianghong Zhang, Tingting Wen, Hongyu Chen, Ziyi Jiang, Weizhong Gu, Weihua Yuan, Fengxia Li, Shanshan Shi, Qiang Shu, Lan Yu","doi":"10.1002/ajmg.a.64225","DOIUrl":"https://doi.org/10.1002/ajmg.a.64225","url":null,"abstract":"Dilated cardiomyopathy type 2D (CMD2D) is a rare autosomal recessive disorder characterized by neonatal-onset severe cardiomyopathy, rapid progression to cardiac decompensation, and high mortality, with heart transplantation being the only life-saving intervention. Although mutations in RPL3L, a muscle-specific ribosomal protein gene critical for cardiac and skeletal muscle function, are known to cause CMD2D, this disorder remains genetically and clinically undercharacterized. To date, only 13 patients with RPL3L-related CMD2D have been reported, with nearly all of whom are attributed to compound missense mutations. Using whole exome sequencing, we identified an infant with fulminant DCM and severe acute heart failure who carried compound heterozygous RPL3L variants: c.346C>T (p.R116C) and c.605A>G (p.E202G). Histopathological analysis revealed cardiomyocyte death, collagen deposition, disturbed mitochondrial structure, and deregulated sarcomeres. Computational protein modeling demonstrated these mutations induce conformational changes in RPL3L, suggesting potential functional relevance. This case expands the mutational spectrum of CMD2D and emphasizes the need for further genotype-phenotype correlations to elucidate the pathogenesis of this lethal disorder.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64225"},"PeriodicalIF":1.7,"publicationDate":"2025-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144870867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Retinal Degeneration Diagnosed at 12 and 13 Months and Sensorineural Hearing Loss in Two Unrelated Female Infants With PRS Deficiency. 两名无亲缘关系的PRS缺乏症女婴在12个月和13个月诊断为视网膜变性和感音神经性听力丧失。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-14 DOI: 10.1002/ajmg.a.64227

David Zocche, Mariya Moosajee, Alpana M Kulkarni, Robert H Henderson, Emma Clement, Rita Ibitoye

引用次数: 0

Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report. 两种新型双等位基因PIGV变异在肌阵挛性癫痫和碱性磷酸酶升高患者中的功能特征：1例报告。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-13 DOI: 10.1002/ajmg.a.64220

Matheus Vernet Machado Bressan Wilke, Deepak Panwar, Johannes M Verheijen, Saori Umeshita, Sarah Allen Thurman, Katherine Nickels, Kahlen Darr, Yoshiko Murakami, Eric Klee, Lisa A Schimmenti, Filippo Pinto E Vairo

{"title":"Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report.","authors":"Matheus Vernet Machado Bressan Wilke, Deepak Panwar, Johannes M Verheijen, Saori Umeshita, Sarah Allen Thurman, Katherine Nickels, Kahlen Darr, Yoshiko Murakami, Eric Klee, Lisa A Schimmenti, Filippo Pinto E Vairo","doi":"10.1002/ajmg.a.64220","DOIUrl":"https://doi.org/10.1002/ajmg.a.64220","url":null,"abstract":"Post-translational modifications, such as glycosylation and phosphorylation, play a critical role in protein trafficking, interactions, and stability. Disruptions in these pathways can lead to glycosylphosphatidylinositol (GPI) deficiencies, which present with a spectrum of clinical features, including congenital anomalies, dysmorphic features, developmental delay, hypotonia, and epilepsy. Biallelic variants in PIGV, a key mannosyltransferase in GPI biosynthesis, cause Hyperphosphatasia with Impaired Intellectual Development Syndrome 1 (HPMRS1), a rare disorder characterized by hyperphosphatasia, seizures, developmental delay, hypotonia, abnormal MRI findings, and distinct facial dysmorphisms. Fewer than 30 cases have been reported to date. We conducted a case study and literature review; with clinical data obtained from medical records. A 2-year-old female presented with developmental delay, myoclonic epilepsy, hypotonia, and mild facial dysmorphism. Laboratory results showed elevated alkaline phosphatase (899 U/L) and low pyridoxal 5'-phosphate levels in cerebrospinal fluid (CSF). Brain MRI revealed diffuse cerebral volume loss and ventriculomegaly. Trio genome sequencing identified two PIGV variants: c.1415T>C-p.(Leu472Pro) and c.524T>C-p.(Leu175Pro). Functional studies using PIGV-knockout HEK293 cells transfected with wild-type or mutant PIGV constructs demonstrated reduced GPI-anchored protein (GPI-AP) expression under weaker promoters, indicating impaired enzymatic activity. We report two novel PIGV variants associated with HPMRS1, emphasizing the value of functional assays in variant interpretation. Our findings also highlight the diagnostic relevance of alkaline phosphatase measurement in patients with refractory seizures.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64220"},"PeriodicalIF":1.7,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144833706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family. 整合基因组方法：在一个意大利家庭中，UNC80基因的5外显子基因内缺失与一种新的剪接变体结合导致IHPRF2综合征。

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-13 DOI: 10.1002/ajmg.a.64224

Mario Benvenuto, Dora Varvara, Massimo Carella, Pietro Palumbo, Luigi Bisceglia, Lucia Micale, Marco Castori, Orazio Palumbo

{"title":"Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.","authors":"Mario Benvenuto, Dora Varvara, Massimo Carella, Pietro Palumbo, Luigi Bisceglia, Lucia Micale, Marco Castori, Orazio Palumbo","doi":"10.1002/ajmg.a.64224","DOIUrl":"https://doi.org/10.1002/ajmg.a.64224","url":null,"abstract":"Rare diseases impact ~6%-8% of the population, thus constituting an issue for public health worldwide. The increasing application of genomic technologies in the routine diagnosis of these conditions is documenting the need to integrate multiple techniques in the most complex cases. We describe a 14-year-old boy and his 4-year-old sister, both presenting with neonatal hypotonia, severe global developmental delay, major feeding difficulties with the need for assisted nutrition, inability to speak and walk autonomously, epilepsy, central sleep apnea, and facial dysmorphism, in whom exome sequencing revealed the novel c.798 + 1G>T variant in the UNC80 gene at the heterozygous state. While reverse phenotyping was compatible with a clinical diagnosis of infantile hypotonia, psychomotor retardation, and characteristic facies type 2 syndrome, chromosomal microarray disclosed a microdeletion involving 5 exons (40-44) in the other allele. Our findings expand the mutational repertoire of UNC80 and demonstrate that infantile hypotonia, psychomotor retardation, and characteristic facies type 2 syndrome may also be caused by intragenic copy number variations. The combination of multiple techniques, also comprising exon-level resolution array, is a resource in real-world diagnostics of rare diseases.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64224"},"PeriodicalIF":1.7,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144833708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1. 由FGFR1新变异引起的孤立性外指畸形胎儿Hartsfield综合征的产前诊断

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-13 DOI: 10.1002/ajmg.a.64226

Jun An, Sihui Wu, Kexin Guo, Hao Chen, Chun Yang, Fengchang Qiao, Ping Hu

{"title":"Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.","authors":"Jun An, Sihui Wu, Kexin Guo, Hao Chen, Chun Yang, Fengchang Qiao, Ping Hu","doi":"10.1002/ajmg.a.64226","DOIUrl":"https://doi.org/10.1002/ajmg.a.64226","url":null,"abstract":"Molecular genetic testing was performed on a fetus with ectrodactyly of the right foot to clarify the pathogenic cause and provide evidence for prenatal counseling. Trio whole-exome sequencing (trio-WES) was performed on the fetus and his parents to identify the underlying genetic cause. Candidate variants were validated by Sanger sequencing, and their molecular effects were analyzed through minigene assays. Trio-WES identified a novel heterozygous variant (c.1977+1G>C) in FGFR1, which is consistent with FGFR1-related Hartsfield syndrome (HS; OMIM#615465). Sanger sequencing confirmed that this variant was de novo. The minigene assay revealed that all variants (c.1977+1G>C, c.1977+1G>A, and c.1977+1G>T) at the splice site generated two aberrant splicing events: (1) complete retention of intron 14, leading to a frameshift and premature termination codon; and (2) skipping of exon 14, causing an in-frame deletion of 41 amino acids. These events collectively impaired the function of the FGFR1 protein's tyrosine kinase domain. To our knowledge, prenatal reports of FGFR1-related HS remain extremely limited, and this is the first molecularly confirmed prenatal diagnosis of HS in China. The findings not only expand the mutational spectrum of HS but also provide genetic counseling and reproductive guidance for this family.","PeriodicalId":7507,"journal":{"name":"American Journal of Medical Genetics Part A","volume":" ","pages":"e64226"},"PeriodicalIF":1.7,"publicationDate":"2025-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144833710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

IF 1.7 4区生物学

American Journal of Medical Genetics Part A Pub Date : 2025-08-13 DOI: 10.1002/ajmg.a.64222

Adriana Gomes, Álvaro Martín-Rodríguez, Neil M Shah, Li Hong, Lynne M Bird

引用次数: 0