Article
Hearing impairment in Stickler syndrome: a systematic review.
Orphanet journal of rare diseases - 30 Oct 2012
Acke Frederic R E, Dhooge Ingeborg J M, Malfait Fransiska, De Leenheer Els M R
Abstract excerpt
BACKGROUND: Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance). The auditory phenotype in Stickler syndrome is inconsistently reported. Therefore we performed a...
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