X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the <i>ATRX</i> gene-Reference-Cited by-同舟云学术

X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene

Published:2022-08-13 Issue:10 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Shakarami Fatemeh¹^ORCID,Jahani Mehdi¹,Nouri Zahra¹²,Tabatabaiefar Mohammad Amin¹³⁴

Affiliation:

1. Department of Genetics and Molecular Biology, School of Medicine Isfahan University of Medical Sciences Isfahan Iran

2. Genetics Department Erythron Pathobiology and Genetics Lab Isfahan Iran

3. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease Isfahan University of Medical Sciences Isfahan Iran

4. GenTArget Corp (GTAC), Deputy of Research and Technology Isfahan University of Medical Sciences Isfahan Iran

Funder

Isfahan University of Medical Sciences

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2034

Reference31 articles.

1. Mutation in the 5′ alternatively spliced region of the XNP/ATR-X gene causes Chudley–Lowry syndrome

2. Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X)

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