Novel FGD1 mutation underlying Aarskog–Scott syndrome with myopathy and distal arthropathy-Reference-Cited by-同舟云学术

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Novel FGD1 mutation underlying Aarskog–Scott syndrome with myopathy and distal arthropathy

Published:2013-01 Issue:1 Volume:22 Page:13-17
ISSN:0962-8827
Container-title:Clinical Dysmorphology
language:en
Short-container-title:

Author:

Al-Semari Abdulaziz,Wakil Salma M.,Al-Muhaizea Mohammad A.,Dababo Mohammed,Al-Amr Rana,Alkuraya Fowzan,Meyer Brian F.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Cited by 15 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. Introduction to Rare Genetic Disorders;Rare Genetic Disorders;2024

2. Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features;American Journal of Medical Genetics Part A;2022-04-07

3. Association between pectus excavatum and congenital genetic disorders: A systematic review and practical guide for the treating physician;Journal of Pediatric Surgery;2021-12

4. A novel truncating variant in the FGD1 gene associated with Aarskog–Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly;American Journal of Medical Genetics Part A;2021-06-19

5. The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review;Genetics Research;2021-02-02

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