Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1–8 does not cause Beals syndrome-Reference-Cited by-同舟云学术

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Based on a cohort of 52,879 microarrays, recurrent intragenic FBN2 deletion encompassing exons 1–8 does not cause Beals syndrome

Published:2020-10 Issue:10 Volume:63 Page:104008
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Maya Idit,Kahana Sarit,Agmon-Fishman Ifaat,Klein Cochava,Matar Reut,Berger Racheli,Shohat Mordechai,Basel-Salmon Lina,Sharony Reuven,Sagi-Dain Lena

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference25 articles.

1. Regulation of limb patterning by extracellular microfibrils;Arteaga-Solis;J. Cell Biol.,2001

2. Two novel fibrillin-2 mutations in congenital contractural arachnodactyly;Belleh;Am. J. Med. Genet.,2000

3. Congenital contractural arachnodactyly;Callewaert,2001

4. Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature;Callewaert;Hum. Mutat.,2009

5. A novel mutation (C1425Y) in the FBN2 gene in a father and son with congenital contractural arachnodactyly;Chen;Genet. Test. Mol. Biomarkers,2009

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2. Genetic variations in relation to bleeding and pharmacodynamics of dabigatran in Chinese patients with nonvalvular atrial fibrillation: A nationwide multicentre prospective cohort study;Clinical and Translational Medicine;2022-12

3. Severe congenital contractural arachnodactyly caused by biallelic pathogenic variants in FBN2;European Journal of Medical Genetics;2021-03

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