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THE LONG TERM EVOLUTION OF 6 ADULT PATIENTS WITH COHEN SYNDROME AND THEIR BEHAVIORAL CHARACTERISTICS
- Article from:
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Genetic Counseling
- Article date:
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January 1, 2008
- Author:
- Peeters, K; Willekens, D; Steyaert, J; Fryns, J P
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Copyright informationCopyright Ãditions Médecine et Hygiène 2008. Provided by ProQuest LLC. (Hide copyright information)
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Summary: The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics: Cohen syndrome is an autosomal recessive, multiple congenital anomalies/mental retardation (MCA/MR) syndrome, caused by a mutation in the COH1 gen, localized on chromosome 8q22. COH1 encodes a transmembrane protein of 4.022 ammo-acids with a presumed role in vesicle-mediated sorting and intracellular protein transport. Clinical features are non progressive psychomotor retardation and microcephaly, characteristic facial features, retinal dystrophy, and intermittent neutropenia. Examination of the long-term evolution of 6 patients with Cohen syndrome shows that the clinical features ...
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Cohen syndrome
Indian Journal of Human Genetics;
January 1, 2005 ;
Kumar, T; Scott, Julius;
628 words
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profiling
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The Western Journal of Black Studies;
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Keita, L.;
787 words
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Mayo Clinic Proceedings;
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654 words
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July 1, 2001 ;
Roberts, Jane E; Hatton, Deborah D; Bailey, Donald B Jr;
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Biometrics catalog
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August 13, 1988 ;
126 words
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