A Case of Familial Stickler Syndrome in a Newborn with COL2A1 Gene Mutation / 대한주산의학회잡지
Korean Journal of Perinatology
;
: 100-104, 2014.
Article
in Korean
| WPRIM
| ID: wpr-101633
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Collagen
/
Connective Tissue
Type of study:
Screening study
Limits:
Humans
/
Infant, Newborn
Language:
Korean
Journal:
Korean Journal of Perinatology
Year:
2014
Type:
Article
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