Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
نویسندگان
چکیده
منابع مشابه
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis. Patient-derived fibroblasts showed abnormal HS composition and altered fibroblast growth factor 2 signaling, which was res...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2017
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2017.01.013