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Middle-aged women with hematodiaphyseal dysplasia: Ghosal syndrome: Case report

Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder characterized by increased bone density involving diaphyses of long bones and defective hematopoiesis. It is due to biallelic variants in the TBXAS1 (OMIM*274180) gene, which encodes for thromboxane synthase. We present...

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Autors principals: Diviya Bharathi Ravikumar, MBBS, Barath Prashanth Sivasubramanian, MBBS, Shreya Thungala, MBBS, Gopinath Srinivasan, MBBS, MD, FNVIR, Abul Hasan Shadali Abdul Khader, MBBS, Husna Qadeer, MBBS, Viraj Panchal, MBBS, Vikram Samala Venkata, MD
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2024-10-01
Col·lecció:Radiology Case Reports
Matèries:
Ghosal syndrome
Ghosal hematodiaphyseal dysplasia
Anemia
Bone pain
Metadiaphyseal dysplasia
Bone marrow hypoplasia
Accés en línia:http://www.sciencedirect.com/science/article/pii/S1930043324006149
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