Ontology highlight
ABSTRACT:
SUBMITTER: Tartaglia M
PROVIDER: S-EPMC1182027 | biostudies-literature | 2004 Sep
REPOSITORIES: biostudies-literature
American journal of human genetics 20040709 3
Germline mutations in PTPN11--the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2--represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short stature and facial dysmorphism, as well as skeletal, hematologic, and congenital heart defects. Like many autosomal dominant disorders, a significant percentage of NS cases appear to arise from de novo mutations. Here, we investigated the parental origin of de novo PTPN11 lesions and explored the effec ...[more]