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Titel:

Cohen syndrome diagnosis using whole genome arrays.

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Article
Autor(en):
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....     »
Zeitschriftentitel:
J Med Genet
Jahr:
2011
Band / Volume:
48
Heft / Issue:
2
Seitenangaben Beitrag:
136-40
Sprache:
eng
Volltext / DOI:
doi:10.1136/jmg.2010.082206
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/20921020
Print-ISSN:
0022-2593
TUM Einrichtung:
Institut für Humangenetik
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