Ontology highlight
ABSTRACT:
SUBMITTER: Person AD
PROVIDER: S-EPMC4059519 | biostudies-literature | 2010 Jan
REPOSITORIES: biostudies-literature
Developmental dynamics : an official publication of the American Association of Anatomists 20100101 1
Robinow syndrome is a skeletal dysplasia with both autosomal dominant and autosomal recessive inheritance patterns. It is characterized by short stature, limb shortening, genital hypoplasia, and craniofacial abnormalities. The etiology of dominant Robinow syndrome is unknown; however, the phenotypically more severe autosomal recessive form of Robinow syndrome has been associated with mutations in the orphan tyrosine kinase receptor, ROR2, which has recently been identified as a putative WNT5A re ...[more]