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Title:

Cohen syndrome diagnosis using whole genome arrays.

Document type:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Article
Author(s):
Rivera-Brugués, N; Albrecht, B; Wieczorek, D; Schmidt, H; Keller, T; Göhring, I; Ekici, AB; Tzschach, A; Garshasbi, M; Franke, K; Klopp, N; Wichmann, HE; Meitinger, T; Strom, TM; Hempel, M
Abstract:
Cohen syndrome is a rare autosomal recessive disorder with a complex phenotype including psychomotor retardation, microcephaly, obesity with slender extremities, joint laxity, progressive chorioretinal dystrophy/myopia, intermittent isolated neutropenia, a cheerful disposition, and characteristic facial features. The COH1 gene, which contains 62 exons, is so far the only gene known to be associated with Cohen syndrome. Point mutations, deletions and duplications have been described in this gene....     »
Journal title abbreviation:
J Med Genet
Year:
2011
Journal volume:
48
Journal issue:
2
Pages contribution:
136-40
Language:
eng
Fulltext / DOI:
doi:10.1136/jmg.2010.082206
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/20921020
Print-ISSN:
0022-2593
TUM Institution:
Institut für Humangenetik
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