A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl-Reference-Cited by-同舟云学术

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A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl

Published:2024-05-25 Issue: Volume: Page:
ISSN:2168-8184
Container-title:Cureus
language:en
Short-container-title:

Author:

Alasmari Badriah G,Alpakra Mohammed,Hassanien Sara S,Elmugadam Abdelhakam A,Elzubair Lina,Suliman Enaam A,Alghubishi Somayah A

Publisher

Springer Science and Business Media LLC

Reference20 articles.

1. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss;Stritt S;Blood,2016

2. DIAPH1 mutation as a novel cause of autosomal dominant macrothrombocytopenia and hearing loss;Karki NR;Acta Haematol,2021

3. Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1);Neuhaus C;Clin Genet,2017

4. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous;Lynch ED;Science,1997

5. Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects;Johnson B;Haematologica,2016

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