Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing

Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing

Congenital macrothrombocytopenia is a genetically heterogeneous group of rare disorders. We herein report a large Chinese family presented with phenotypic variability involving thrombocytopenia and/or giant platelets. Whole genome sequencing (WGS) of the proband and one of his affected brothers iden...

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Bibliographic Details
Main Authors: Yu Hou, Linlin Shao, Hai Zhou, Yanfeng Liu, Dianna G. Fisk, Elizabeth Spiteri, James L. Zehnder, Jun Peng, Bing M. Zhang, Ming Hou
Format: Article
Language:English
Published: Taylor & Francis Group 2021-11-01
Series:Platelets
Subjects:
congenital macrothrombocytopenia
phenotypic variability
platelet function
tubb1
whole genome sequencing
Online Access:http://dx.doi.org/10.1080/09537104.2020.1869714

Internet

http://dx.doi.org/10.1080/09537104.2020.1869714

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