Ontology highlight
ABSTRACT:
SUBMITTER: Hanson-Kahn A
PROVIDER: S-EPMC7608529 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Hanson-Kahn Andrea A Li Bing B Cohn Daniel H DH Nickerson Deborah A DA Bamshad Michael J MJ Hudgins Louanne L
American journal of medical genetics. Part A 20181118 12
Stickler syndrome is a connective tissue disorder characterized by hearing loss, ocular anomalies, palatal defects, and skeletal abnormalities. The autosomal dominant form is the most common, but autosomal recessive forms have also been described. We report the second case of autosomal recessive Stickler syndrome due to homozygosity for a loss of function mutation in COL9A3, which encodes the α3 chain of type IX procollagen. The clinical features were similar to the previously described COL9A3 S ...[more]