Perinatal features of the RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome and Costello syndrome

American Journal of Medical Genetics, Part A

Volumn 164, Issue 11, 2014, Pages 2814-2821

  Myers, Angela ^a   Bernstein, Jonathan A ^a   Brennan, Marie Luise ^a   Curry, Cynthia ^c,d   Esplin, Edward D ^a   Fisher, Jamie ^c   Homeyer, Margaret ^b   Manning, Melanie A ^a   Muller, Eric A ^a   Niemi, Anna Kaisa ^a   Seaver, Laurie H ^e,f   Hintz, Susan R ^a   Hudgins, Louanne ^a  

^a STANFORD UNIVERSITY   (United States)

^b LUCILE PACKARD CHILDREN S HOSPITAL   (United States)

^c Genetic Medicine Central California   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e Kapiolani Medical Specialties ^*  (United States)

^f UNIVERSITY OF HAWAII   (United States)

Author keywords

Cardiofaciocutaneous syndrome; Costello syndrome; Noonan syndrome; Prenatal diagnosis; RASopathy

Indexed keywords

ARTICLE; CARDIOFACIOCUTANEOUS SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; COSTELLO SYNDROME; DEVELOPMENTAL DISORDER; DIFFERENTIAL DIAGNOSIS; FEMALE; FETUS; HEART ARRHYTHMIA; HUMAN; HYDRAMNIOS; HYPOGLYCEMIA; KIDNEY MALFORMATION; LARYNGOMALACIA; LYMPHATIC SYSTEM DISEASE; MACROCEPHALY; MACROSOMIA; MALE; MUSCLE HYPOTONIA; NEWBORN; NOONAN SYNDROME; PREMATURITY; PRIORITY JOURNAL; RASOPATHY; RESPIRATORY DISTRESS; CASE REPORT; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; GENETICS; HEART DEFECTS, CONGENITAL; MULTIPLE MALFORMATION SYNDROME; MUTATION; NEWBORN SCREENING; PHENOTYPE; PRENATAL DIAGNOSIS;

ABNORMALITIES, MULTIPLE; COSTELLO SYNDROME; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; NOONAN SYNDROME; PHENOTYPE; PRENATAL DIAGNOSIS;

EID: 84910637017     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36737     Document Type: Article

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