Immunoskeletal dysplasia with neurodevelopmental abnormalities

Definition:

Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is an autosomal recessive syndrome caused by mutations in EXTL3. ISDNA is characterized by severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. EXTL3 encodes a glycosyltransferase involved in heparan sulfate biosynthesis.

References:

[1]. Machteld M Oud, et al. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. Am J Hum Genet. 2017 Feb 2;100(2):281-296. [Content Brief]

[2]. Stefano Volpi, et al. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. J Exp Med. 2017 Mar 6;214(3):623-637. [Content Brief]

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