Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids

Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids

Abstract Background Homozygous or compound heterozygous pathogenic variants in the thromboxane A synthase 1 (TBXAS1) gene are associated with Ghosal hematodiaphyseal dysplasia (GHDD) which is characterized by defective hematopoiesis and increased bone density of long bones. Methods Patients 1 and 2...

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Bibliographic Details
Main Authors: Sun Young Kim, Alexander Ing, Shunyou Gong, Kai Lee Yap, Rukhmi Bhat
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
anemia
Ghosal hematodiaphyseal dysplasia
TBXAS1
thromboxane synthase 1
Online Access:https://doi.org/10.1002/mgg3.1494

Internet

https://doi.org/10.1002/mgg3.1494

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