Keutel syndrome
From Wikipedia, the free encyclopedia
Keutel syndrome Classification and external resources |
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OMIM | 245150 |
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DiseasesDB | 33698 |
Keutel syndrome is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation.[1] [2] [3] It was first identified in 1972.[1]
It is associated with Matrix gla protein.[4]
[edit] References
- ^ a b Munroe, Patricia; Rana O. Olgunturk, Jean-Pierre Fryns, Lionel Van Maldergem, France Ziereisen, Bulend Yuksel, R. Mark Gardiner & Eddie Chung (1999). "Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome". Nature Genetics (21): 142–144. doi: .
- ^ Potparic, Olivera; John Gibson (1995). A Dictionary of Congenital Malformations and Disorders. Informa Health Care, 98. ISBN 1850705771.
- ^ Teebi, A. S.; Lambert DM, Kaye GM, Al-Fifi S, Tewfik TL, Azouz EM. (1998-06-30). "Keutel syndrome: further characterization and review.". American Journal of Medical Genetics 78 (2): 182–7. doi: .
- ^ Munroe PB, Olgunturk RO, Fryns JP, et al (January 1999). "Mutations in the gene encoding the human matrix Gla protein cause Keutel syndrome". Nat. Genet. 21 (1): 142–4. doi: . PMID 9916809.
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