Novel TBXAS1 variants in two Indian children with Ghosal hematodiaphyseal dysplasia: A concise report.
Eur J Med Genet
; 65(5): 104498, 2022 May.
Article
em En
| MEDLINE
| ID: mdl-35395429
ABSTRACT
Ghosal hematodiaphyseal dysplasia (GHDD) is a rare, autosomal recessive condition characterised by diaphyseal dysplasia of long bones with defective haematopoiesis. We describe 2 such cases with clinical and radiological evidence of GHDD. Molecular analysis revealed novel variants in TBXAS1 gene in both of them. Suspicion and confirmation of this entity is crucial in cases of refractory anemia with bony deformities, as the clinical manifestations in this entity are usually well responsive to corticosteroids.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
/
Anemia Refratária
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
Idioma:
En
Revista:
Eur J Med Genet
Ano de publicação:
2022
Tipo de documento:
Article