A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family

A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family

Aim: To determine the etiology of a Chinese family with thrombocytopenia by analyzing the clinical features and genetic variation.Methods: Clinical profiles and genomic DNA extracts of the family members were collected for the study. Whole exome sequencing and Sanger sequencing was used to detect th...

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Bibliographic Details
Main Authors: Fengyu Che, Jiangang Zhao, Yujuan Zhao, Zhi Wang, Liyu Zhang, Ying Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-01-01
Series:Frontiers in Genetics
Subjects:
CYCS gene
platelet counts
cytochrome c
mutation
thrombocytopenia
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.783455/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2021.783455/full

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