A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome

Abstract

Stickler syndrome (STL) is an autosomal, dominantly inherited, clinically variable and genetically heterogeneous connective tissue disorder characterized by ocular, auditory, orofacial and skeletal abnormalities. We conducted targeted resequencing using a next-generation sequencer for molecular diagnosis of a 2-year-old girl who was clinically suspected of… (More)
DOI: 10.1038/hgv.2016.3

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