Ontology highlight
ABSTRACT:
SUBMITTER: Nicolas E
PROVIDER: S-EPMC2987462 | biostudies-literature | 2010 Oct
REPOSITORIES: biostudies-literature
Nicolas Elsa E Poitelon Yannick Y Chouery Eliane E Salem Nabiha N Levy Nicolas N Mégarbané André A Delague Valérie V
European journal of human genetics : EJHG 20100609 10
CAMOS (Cerebellar Ataxia with Mental retardation, Optic atrophy and Skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities. Using homozygosity mapping in a large inbred Lebanese Druze family, we previously reported the mapping of the disease gene at chromosome 15q24-q26 to a 3.6-cM interval between markers D15S206 and D15S199. Screening of candidate genes l ...[more]