A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.

Abstract

Nager syndrome is a rare preaxial acrofacial dysostosis that is caused by heterozygous loss-of-function variants in SF3B4. This gene encodes for a protein required for the assembly of spliceosomal complexes, being a master gene for splicing regulation. The main clinical features of Nager syndrome include facial-mandibular and preaxial limb malformations… (More)
DOI: 10.1038/ejhg.2016.176

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