Noonan syndrome: Comparing mutation-positive with mutation-negative dutch patients

Molecular Syndromology

Volumn 4, Issue 5, 2013, Pages 227-234

  Croonen, E A ^a   Nillesen, W ^a   Schrander, C ^b   Jongmans, M ^a   Scheffer, H ^a   Noordam, C ^a   Draaisma, J M T ^a   Van Der Burgt, I ^a   Yntema, H G ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Congenital heart defects; Facial characteristics; Noonan syndrome; RAS MAPK pathway; RASopathies

Indexed keywords

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; FACE; FEMALE; GENE MUTATION; GENOTYPE; HEART; HUMAN; MALE; MISSENSE MUTATION; NOONAN SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY VALVE; PULMONARY VALVE STENOSIS; SCHOOL CHILD; SHORT STATURE; CRYPTORCHISM; FEEDING DIFFICULTY; GENOTYPE PHENOTYPE CORRELATION; HYPERTELORISM; LOW SET EAR; PIGMENTED NEVUS;

B RAF KINASE; K RAS PROTEIN; MICROTUBULE ASSOCIATED PROTEIN 2; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN; SHOC2 PROTEIN; SOS PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 1; UNCLASSIFIED DRUG;

EID: 84880006609     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000350686     Document Type: Article

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