Clinical observation and genetic analysis of a <scp>SYNS1</scp> family caused by novel <scp>NOG</scp> gene mutation-Reference-Cited by-同舟云学术

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Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation

Published:2022-03-25 Issue:5 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Zhang Zhao¹,Lu Yu²³,Cao Jing‐Yuan¹,Wang Li¹,Li Lin‐Ke²³,Wang Chao²,Ye Xuan¹,Ji Yi‐Ming⁴,Tu Lin‐Yi⁵,Sun Yi¹^ORCID

Affiliation:

1. Department of Otolaryngology Head and Neck Surgery General Hospital of Central Theater Command Wuhan China

2. Institute of Rare Diseases Sichuan University West China Hospital Chengdu China

3. Department of Otolaryngology Head and Neck Surgery Sichuan University West China Hospital Chengdu China

4. College of Art and Science New York University New York New York USA

5. Department of anorectal Wuhan eighth hospital Wuhan China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1933

Reference24 articles.

1. Multiple synostoses syndrome in three members of a family displaying a novel mutation in NOGGIN gene

2. Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novelNOGmutation and without hearing loss

3. The ACMG/AMP reputable source criteria for the interpretation of sequence variants

4. GDF5 Is a Second Locus for Multiple-Synostosis Syndrome

5. Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism

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