Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran-Reference-Cited by-同舟云学术

Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran

Published:2022-06-27 Issue:9 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Yassaee Vahid Reza¹²^ORCID,Khojasteh Arash³^ORCID,Hashemi‐Gorji Farzad¹^ORCID,Sadeghi Hossein¹^ORCID,Safiaghdam Hannaneh⁴^ORCID,Mirfakhraie Reza¹²^ORCID

Affiliation:

1. Genomic Research Center Shahid Beheshti University of Medical Sciences Tehran Iran

2. Department of Medical Genetics, School of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran

3. Dental Research Center, Research Institute of Dental Sciences Shahid Beheshti University of Medical Sciences Tehran Iran

4. Student Research Committee, Dental School Shahid Beheshti University of Medical Sciences Tehran Iran

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2004

Reference29 articles.

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3. Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies

4. Recessive Mutations in the Putative Calcium-Activated Chloride Channel Anoctamin 5 Cause Proximal LGMD2L and Distal MMD3 Muscular Dystrophies

5. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

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