Open AccessA Korean Patient with Kniest Syndrome associated with Lipomeningomyelocele
Author(s) -
Hye Won Min,
Kyo Yeon Koo,
Chul Ho Lee,
Jeong Yang,
JinSung Lee
Publication year - 2012
Publication title -
journal of genetic medicine
Language(s) - English
Resource type - Journals
eISSN - 2233-9108
pISSN - 1226-1769
DOI - 10.5734/jgm.2012.9.2.93
Subject(s) - kyphoscoliosis , medicine , pathology , connective tissue disorder , overlap syndrome , cartilage , scoliosis , anatomy , surgery , disease
Kniest syndrome (OMIM #156550) is a rare autosomal dominant disorder caused by a dysfunction of type II collagen, which is encoded by the COL2A1 gene...
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