" /> Noonan syndrome 3 - CISMeF





Preferred Label : Noonan syndrome 3;

Symbol : NS3;

CISMeF acronym : NS3;

Type : Phenotype, molecular basis known;

Description : Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950), which is caused by mutations in the PTPN11 gene (176876). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the KRAS protooncogene, GTPase, gene (KRAS, 190070.0010);

Prefixed ID : #609942;

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27/07/2025


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