Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome
2014
Cerebro–costo–mandibular syndrome, CCMS, is a severe human multiple malformation disorder. Here, the authors report that mutations in SNRPB disrupt the normal regulation of alternative splicing at this gene, and in so doing, may be responsible for the development of CCMS.
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