A Case of Familial Stickler Syndrome in a Newborn withCOL2A1Gene Mutation
Year: 2014
Type: article
Study design: Case Report
Abstract: Stickler syndrome is a progressive, hereditary disorder of connective tissue caused by mutations in different collagen genes. It is characterized by distinctive ocular, auditory, skeletal and oro-facial abnormalities and associated with long-term respiratory, nutritional, and developmental difficulties. Therefore, early detection and early treatment of Stickler syndrome is very important. We reported a case of Stickler syndrome in a newborn with family history and COL2A1 gene mutation.
Source: PERINATOLOGY (구 대한주산의학회잡지)
Authors: Ho Young Kim, Min Seon Choi, Moon Woo Seong, Sung Sup Park, Sang Kee Park
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W2015364069