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

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 glycosyltransferase 3...

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Detalles Bibliográficos
Autores principales: Bajaj, Shruti, Satoskar, Purnima, Nair, Aadhira, Sheth, Frenny, Sheth, Jayesh, Sheth, Harsh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8812182/
https://www.ncbi.nlm.nih.gov/pubmed/35114981
http://dx.doi.org/10.1186/s12887-022-03143-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8812182/
https://www.ncbi.nlm.nih.gov/pubmed/35114981
http://dx.doi.org/10.1186/s12887-022-03143-2

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