Results 1 -
4
of
4
for
LEOPARD syndrome 3
- ... Testing Registry: LEOPARD syndrome 2 Genetic Testing Registry: LEOPARD syndrome 3 Genetic Testing Registry: Noonan syndrome with multiple lentigines ... LEOPARD SYNDROME 1; LPRD1 LEOPARD SYNDROME 2; LPRD2 LEOPARD SYNDROME 3; LPRD3 PubMed Kato H, Yoshida R, Tsukamoto K, ...
- ... cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized by multiple brown skin ... Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet. 2007 Aug;39( ...
- ... cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized by multiple brown skin ... B, Tartaglia M. Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat. ...
- ... cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized by multiple brown skin ... within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science. 2006 Mar 3;311(5765):1287-90. doi: 10.1126/science. ...