Ontology highlight
ABSTRACT:
SUBMITTER: Kahrizi K
PROVIDER: S-EPMC2985958 | biostudies-literature | 2009 Jan
REPOSITORIES: biostudies-literature
Kahrizi Kimia K Najmabadi Hossein H Kariminejad Roxana R Jamali Payman P Malekpour Mahdi M Garshasbi Masoud M Ropers Hans Hilger HH Kuss Andreas Walter AW Tzschach Andreas A
European journal of human genetics : EJHG 20080910 1
We report on three siblings with a novel mental retardation (MR) syndrome who were born to distantly related Iranian parents. The clinical problems comprised severe MR, cataracts with onset in late adolescence, kyphosis, contractures of large joints, bulbous nose with broad nasal bridge, and thick lips. Two patients also had uni- or bilateral iris coloboma. Linkage analysis revealed a single 10.4 Mb interval of homozygosity with significant LOD score in the pericentromeric region of chromosome 4 ...[more]