The cardiofaciocutaneous syndrome

Journal of Medical Genetics

Volumn 43, Issue 11, 2006, Pages 833-842

  Roberts, A ^b   Allanson, J ^c,d   Jadico, S K ^e   Kavamura, M I ^f   Noonan, J ^g   Opitz, J M ^h   Young, T ⁱ   Neri, G ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b PARTNERS HEALTHCARE   (United States)

^c CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^d UNIVERSITY OF OTTAWA   (Canada)

^e UNIVERSITY OF PENNSYLVANIA   (United States)

^f FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^g UNIVERSITY OF KENTUCKY   (United States)

^h UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

ⁱ DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; K RAS PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN;

ADNEXA DISEASE; APOPTOSIS; CARDIOFACIOCUTANEOUS SYNDROME; CAVERNOUS HEMANGIOMA; CELL DIFFERENTIATION; CELL PROLIFERATION; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; COSTELLO SYNDROME; DISEASE ASSOCIATION; FACE MALFORMATION; GENE MUTATION; GENETIC SCREENING; HERITABILITY; HUMAN; HYPERTELORISM; MACROCEPHALY; MENTAL DEFICIENCY; NOONAN SYNDROME; PATHOGENESIS; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; REVIEW; SKIN DISEASE;

ABNORMALITIES, MULTIPLE; DIAGNOSIS, DIFFERENTIAL; DIGESTIVE SYSTEM ABNORMALITIES; EYE ABNORMALITIES; FACIES; FEMALE; GENES; HEART DEFECTS, CONGENITAL; HEMATOLOGIC DISEASES; HUMANS; MALE; MUTATION; NERVOUS SYSTEM MALFORMATIONS; NOONAN SYNDROME; SKIN ABNORMALITIES; SYNDROME;

EID: 33751257771     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2006.042796     Document Type: Review

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