Article
Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.
American journal of medical genetics. Part A - 1 Nov 2014
Myers Angela, Bernstein Jonathan A, Brennan Marie-Luise, Curry Cynthia, Esplin Edward D, Fisher Jamie, Homeyer Margaret, Manning Melanie A, Muller Eric A, Niemi Anna-Kaisa, Seaver Laurie H, Hintz Susan R, Hudgins Louanne
Abstract excerpt
The RASopathies are a family of developmental disorders caused by heritable defects of the RAS/MAPK signaling pathway. While the postnatal presentation of this group of disorders is well known, the prenatal and neonatal findings are less widely recognized. We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello...
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