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

Internet

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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