A Novel Homozygous Nonsense Variant in the <i>DYM</i> Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

A Novel Homozygous Nonsense Variant in the <i>DYM</i> Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family

(1) Background: Dyggve-Melchior-Clausen Syndrome is a skeletal dysplasia caused by a defect in the <i>DYM</i> gene (OMIM number 607461). Pathogenic variants in the gene have been reported to cause Dyggve-Melchior-Clausen (DMC; OMIM 223800) dysplasia and Smith-McCort (SMC; OMIM 607326) dy...

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Bibliographic Details
Main Authors: Abu Bakar, Sulaiman Shams, Nousheen Bibi, Asmat Ullah, Wasim Ahmad, Musharraf Jelani, Osama Yousef Muthaffar, Angham Abdulrhman Abdulkareem, Turki S. Abujamel, Absarul Haque, Muhammad Imran Naseer, Bushra Khan
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Genes
Subjects:
<i>DYM</i> gene
Dyggve-Melchior-Clausen Syndrome
homozgosity mapping
sanger sequencing
novel homozygous
non-sense variant
Online Access:https://www.mdpi.com/2073-4425/14/2/510

Internet

https://www.mdpi.com/2073-4425/14/2/510

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