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

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 are ide...

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Detalles Bibliográficos
Autores principales:	Kim, Sun Young, Ing, Alexander, Gong, Shunyou, Yap, Kai Lee, Bhat, Rukhmi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104173/ https://www.ncbi.nlm.nih.gov/pubmed/33595912 http://dx.doi.org/10.1002/mgg3.1494

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