Ontology highlight
ABSTRACT:
SUBMITTER: Megarbane A
PROVIDER: S-EPMC2986550 | biostudies-literature | 2009 Aug
REPOSITORIES: biostudies-literature
Mégarbané André A Slim Rima R Nürnberg Gudrun G Ebermann Inga I Nürnberg Peter P Bolz Hanno Jörn HJ
European journal of human genetics : EJHG 20090204 8
We have earlier described a syndrome characterized by microcephaly, cutis verticis gyrata, retinitis pigmentosa, cataracts, hearing loss and mental retardation (Mendelian inheritance in man (MIM) no: 605685) in two brothers from a non-consanguineous Lebanese family. In view of the rarity of the disorder and the high rate of inbreeding in the Lebanese population, we assumed an autosomal recessive trait inherited from a common ancestor. A genomewide scan was performed. The single locus on the long ...[more]