A Novel missense mutation of COL2A1 gene in a large family with stickler syndrome type I
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DOI: 10.1111/jcmm.17187
Abstract: Stickler syndrome type I (STL1, MIM 108300) is characterized by ocular, auditory, skeletal and orofacial manifestations. Nonsyndromic ocular STL1 (MIM 609508) characterized by predominantly ocular features is a subgroup of STL1, and it is inherited… read more here.
Keywords: syndrome type; family; nonsyndromic ocular; col2a1 ... See more keywords