Article
Long term follow-up of four patients with Keutel syndrome.
American journal of medical genetics. Part A - 1 Nov 2014
Khosroshahi H E, Sahin S C, Akyuz Y, Ede H
Abstract excerpt
Keutel syndrome (KS) [OMIM 245150] is an autosomal recessive hereditary syndrome characterized by multiple peripheral pulmonary stenoses (PPS), brachytelephalangia, inner ear deafness, and abnormal cartilage ossification or calcification. Mutations in the matrix Gla protein (MGP) gene have been reported in different unrelated families with KS previously. MGP is an extracellular matrix protein and calcification...
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