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

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...

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Bibliographic Details

Published in:	BMC Pediatrics
Main Authors:	Shruti Bajaj, Purnima Satoskar, Aadhira Nair, Frenny Sheth, Jayesh Sheth, Harsh Sheth
Format:	Article
Language:	English
Published:	BMC 2022-02-01
Subjects:	Bone dysplasia Developmental delay Heparan sulphate Immunoskeletal dysplasia with neurodevelopmental abnormalities EXTL3
Online Access:	https://doi.org/10.1186/s12887-022-03143-2