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

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

Internet

https://doi.org/10.1186/s12887-022-03143-2

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