Article
Dermatological manifestations, management, and care in RASopathies.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2022
Kavamura Maria Ines, Leoni Chiara, Neri Giovanni
Abstract excerpt
RASopathies are rare genetic disorders caused by germline pathogenic variants in genes belonging to the RAS/MAPK pathway, which signals cell proliferation, differentiation, survival and death. The dysfunction of such signaling pathway causes syndromes with overlapping clinical manifestations. Skin and adnexal lesions are the cardinal clinical signs of RASopathies, such as cardiofaciocutaneous syndrome, Noonan...
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