Atrioventricular canal defect in patients with RASopathies

European Journal of Human Genetics

Volumn 21, Issue 2, 2013, Pages 200-204

  Digilio, Maria Cristina ^a   Romana Lepri, Francesca ^a   Lisa Dentici, Maria ^a   Henderson, Alex ^b   Baban, Anwar ^a   Cristina Roberti, Maria ^a   Capolino, Rossella ^a   Versacci, Paolo ^c   Surace, Cecilia ^a   Angioni, Adriano ^a   Tartaglia, Marco ^d   Marino, Bruno ^c   Dallapiccola, Bruno ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d ISTITUTO SUPERIORE DI SANITÀ   (Italy)

Author keywords

atrioventricular canal defect; Noonan syndrome; PTPN11 gene; RAF1 gene; RAS MAPK pathway

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN;

ARTICLE; ATRIOVENTRICULAR CANAL DEFECT; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; FEMALE; GENE; GENE MUTATION; GENETIC DISORDER; HUMAN; MALE; PREVALENCE; PRIORITY JOURNAL; PTPN11 GENE; RAF1 GENE; RASOPATHY;

ENDOCARDIAL CUSHION DEFECTS; FEMALE; GENETIC ASSOCIATION STUDIES; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MUTATION; NOONAN SYNDROME; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; PROTO-ONCOGENE PROTEINS C-RAF; SOS1 PROTEIN;

EID: 84872498338     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.145     Document Type: Article

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