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...

Bibliografski detalji
Glavni autori:	Yu Hou, Linlin Shao, Hai Zhou, Yanfeng Liu, Dianna G. Fisk, Elizabeth Spiteri, James L. Zehnder, Jun Peng, Bing M. Zhang, Ming Hou
Format:	Članak
Jezik:	English
Izdano:	Taylor & Francis Group 2021-11-01
Serija:	Platelets
Teme:	congenital macrothrombocytopenia phenotypic variability platelet function tubb1 whole genome sequencing
Online pristup:	http://dx.doi.org/10.1080/09537104.2020.1869714

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