A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly-Reference-Cited by-同舟云学术

A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly

Published:2021-05 Issue:8 Volume:185 Page:2586-2592
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Rogers Alice P.¹,Friend Kathryn²,Rawlings Lesley³,Barnett Christopher P.¹^ORCID

Affiliation:

1. Women's and Children's Hospital, Paediatric and Reproductive Genetics Unit North Adelaide South Australia Australia

2. Genetics and Molecular Pathology Women's and Children's Hospital North Adelaide South Australia Australia

3. Genetics and Molecular Pathology SA Pathology Adelaide South Australia Australia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62238

Reference24 articles.

1. Redefining the MED13L syndrome

2. Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

3. An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p

4. Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

5. De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

Cited by 6 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Expanding phenotype of MED13-associated syndrome presenting novel de novo missense variant in a patient with multiple congenital anomalies;BMC Medical Genomics;2024-05-14

2. A de novo frameshift variant in MED13 gene in a patient with autism spectrum disorder and magnetic resonance imaging abnormalities mimicking tuberous sclerosis;American Journal of Medical Genetics Part A;2024-03-25

3. The association of GNB5 with Alzheimer disease revealed by genomic analysis restricted to variants impacting gene function;The American Journal of Human Genetics;2024-03

4. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders;Brain;2023-07-30

5. A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease;Genetics in Medicine;2022-10