Ontology highlight
ABSTRACT:
SUBMITTER: Mangino M
PROVIDER: S-EPMC1377943 | biostudies-other | 1999 Aug
REPOSITORIES: biostudies-other
American journal of human genetics 19990801 2
Patella aplasia-hypoplasia (PTLAH) is a rare genetic defect characterized by congenital absence or marked reduction of the patella. PTLAH can occur either as an isolated defect or in association with other malformations, and it characteristically occurs in the nail-patella syndrome and in some chromosome imbalances. We report the first evidence of linkage for isolated PTLAH in an extended Venezuelan family. After exclusion of the candidate chromosome regions where disorders associated with PTLAH ...[more]