High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome

Cohen syndrome is a rare, clinically variable autosomal recessive disorder characterized by mental retardation, postnatal microcephaly, facial dysmorphisms, ocular abnormalities and intermittent neutropenia. Mutations in the COH1 gene have been found in patients from different ethnic origins. Howeve...

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Autors principals: Parri, Veronica, Katzaki, Eleni, Uliana, Vera, Scionti, Francesca, Tita, Rossella, Artuso, Rosangela, Longo, Ilaria, Boschloo, Renske, Vijzelaar, Raymon, Selicorni, Angelo, Brancati, Francesco, Dallapiccola, Bruno, Zelante, Leopoldo, Hamel, Christian P, Sarda, Pierre, Lalani, Seema R, Grasso, Rita, Buoni, Sabrina, Hayek, Joussef, Servais, Laurent, de Vries, Bert B A, Georgoudi, Nelly, Nakou, Sheena, Petersen, Michael B, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2010
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987453/
https://ncbi.nlm.nih.gov/pubmed/20461111
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.59
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