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Clinical overview on RASopathies.
Zenker M. Zenker M. Am J Med Genet C Semin Med Genet. 2022 Dec;190(4):414-424. doi: 10.1002/ajmg.c.32015. Epub 2022 Nov 25. Am J Med Genet C Semin Med Genet. 2022. PMID: 36428239 Review.
Noonan syndrome and the less frequent, clinically related disorders, Costello syndrome, cardiofaciocutaneous syndrome, Noonan syndrome with multiple lentigines, and Noonan syndrome-like disorder with loose anagen h
Noonan syndrome and the less frequent, clinically related disorders, Costello syndrome, cardiofaciocutaneous syndrome, Noon
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
Bertola D, Yamamoto G, Buscarilli M, Jorge A, Passos-Bueno MR, Kim C. Bertola D, et al. Am J Med Genet A. 2017 Mar;173(3):824-828. doi: 10.1002/ajmg.a.38070. Am J Med Genet A. 2017. PMID: 28211982 Review.
This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot. Phenotypically, he also showed the same hair pattern-sparse, thin, and with slow growing-, similar to the typical ectodermal finding observed in Noonan
This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot. Phenotypically, he also …