Ontology highlight
ABSTRACT:
SUBMITTER: Parri V
PROVIDER: S-EPMC2987453 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
Parri Veronica V Katzaki Eleni E Uliana Vera V Scionti Francesca F Tita Rossella R Artuso Rosangela R Longo Ilaria I Boschloo Renske R Vijzelaar Raymon R Selicorni Angelo A Brancati Francesco F Dallapiccola Bruno B Zelante Leopoldo L Hamel Christian P CP Sarda Pierre P Lalani Seema R SR Grasso Rita R Buoni Sabrina S Hayek Joussef J Servais Laurent L de Vries Bert B A BB Georgoudi Nelly N Nakou Sheena S Petersen Michael B MB Mari Francesca F Renieri Alessandra A Ariani Francesca F
European journal of human genetics : EJHG 20100512 10
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. However, a high percentage of patients have only one or no mutated allele. To investigate whether COH1 copy number changes account for missed mutations, we used multiplex ligation-dependent probe amplificat ...[more]