Condition: Deafness, Autosomal Dominant 13


rs121912947 in COL11A2 gene and Deafness, Autosomal Dominant 13 PMID 10581026 1999 Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

PMID 15372529 2004 A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.