Novel compound heterozygous variants of TBXAS1 presenting with Ghosal hematodiaphyseal dysplasia treated with steroids
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1494
Abstract: 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. read more here.
Keywords: novel compound; compound heterozygous; hematodiaphyseal dysplasia; ghosal hematodiaphyseal ... See more keywords
A Recurrent Biallelic Pathogenic Variant in TBXAS1 Gene Causing Ghosal Hematodiaphyseal Dysplasia
Sign Up to like & getrecommendations! Published in 2020 at "Indian Journal of Pediatrics"
DOI: 10.1007/s12098-020-03581-9
Abstract: To the Editor:Ghosal hematodiaphyseal dysplasia (GHHD) is a rare autosomal recessive disorder with increased bone density, meta-diaphyseal dysplasia, and defective hematopoiesis [1]. We report a known pathogenic variant in TBXAS1 gene from South India, the… read more here.
Keywords: tbxas1 gene; ghosal hematodiaphyseal; pathogenic variant; dysplasia ... See more keywords