A novel missense mutation in the TGF-β-binding protein-like domain 3 of FBN1 causes Weill–Marchesani syndrome with intellectual disability-Reference-Cited by-同舟云学术

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A novel missense mutation in the TGF-β-binding protein-like domain 3 of FBN1 causes Weill–Marchesani syndrome with intellectual disability

Published:2023 Issue:1 Volume:12 Page:114
ISSN:2277-9175
Container-title:Advanced Biomedical Research
language:en
Short-container-title:Adv Biomed Res

Author:

Nozari Ahoura,Hassani Mahdieh,Taghizadeh Sara,Farahzad Broujeni Anahita,Habibi Mahvash,Banitalebi Setareh,Kasiri Mahbubeh,Sadeghi Alireza

Publisher

Medknow

Subject

General Biochemistry, Genetics and Molecular Biology

Reference18 articles.

1. Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome;Faivre;Am J Med Genet A,2003

2. Marzin P, Cormier-Daire V, Tsilou E. Weill-Marchesani syndrome. Book from University of Washington, Seattle, Seattle (WA), 10 Dec 2020.

3. Weill-Marchesani Syndrome.2007 Nov 1 [Updated 2013 Feb 14] University of Washington, Seattle;;Tsilou;GeneReviews® [Internet],2017

4. Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis;Chu;Clin Exp Optom,2006

5. Weill-Marchesani syndrome, a rare presentation of severe short stature with review of the literature;Al;Am J Case Rep,2021

Cited by 1 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. Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report;Diagnostics;2023-07-04

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