An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report

• Autors principals: Shruti Bajaj (Autor), Purnima Satoskar (Autor), Aadhira Nair (Autor), Frenny Sheth (Autor), Jayesh Sheth (Autor), Harsh Sheth (Autor)
• Format: Llibre
• Publicat: BMC, 2022-02-01T00:00:00Z.
• Matèries: article
• Accés en línia: Connect to this object online.

Abstract Background Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is an ultra-rare genetic condition that belongs to the group of spondyloepimetaphyseal dysplasias. It is caused due to presence of biallelic variants in the EXTL3 gene. The encoded exostosin like glycosyltrans...