" /> Cardiofaciocutaneous syndrome 2 - CISMeF





Preferred Label : Cardiofaciocutaneous syndrome 2;

Symbol : CFC2;

CISMeF acronym : CFC2;

Type : Phenotype, molecular basis known;

Description : Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (164757)-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in KRAS protooncogene, GTPase (KRAS, 190070.0009);

Prefixed ID : #615278;

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27/07/2025


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