Cardio-facio-cutaneous syndrome: Does genotype predict phenotype?

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 157, Issue 2, 2011, Pages 129-135

  Allanson, Judith E ^a,b   Annerén, Göran ^c   Aoki, Yoki ^d   Armour, Christine M ^e   Bondeson, Marie Louise ^c   Cave, Helene ^f   Gripp, Karen W ^g   Kerr, Bronwyn ^h   Nystrom, Anna Maja ^a   Sol Church, Katia ⁱ   Verloes, Alain ^j   Zenker, Martin ^k  

^a SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES   (Sweden)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^d TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e QUEEN S UNIVERSITY   (Canada)

^f Medical University   (France)

^g University of Philadelphia   (United States)

^h MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

ⁱ THOMAS JEFFERSON UNIVERSITY   (United States)

^j UNIVERSITÉ PARIS DESCARTES   (France)

^k UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

more..

Author keywords

Cardio facio cutaneous syndrome; CFC; Costello; Genotype phenotype; Noonan

Indexed keywords

B RAF KINASE; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; MITOGEN ACTIVATED PROTEIN KINASE KINASE 2;

ADOLESCENT; ADULT; ARACHNOID CYST; ARNOLD CHIARI MALFORMATION; ARTICLE; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CARDIOFACIOCUTANEOUS SYNDROME; CHILD; CRYPTORCHISM; FAILURE TO THRIVE; FEEDING DISORDER; FEMALE; FUNNEL CHEST; GENE MUTATION; GENOTYPE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDRAMNIOS; HYDROCEPHALUS; HYPERKERATOSIS; HYPERTROPHIC CARDIOMYOPATHY; INFANT; INTELLIGENCE QUOTIENT; KERATOSIS; KIDNEY MALFORMATION; KYPHOSIS; MACROCEPHALY; MACROSOMIA; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; MULTIPLE MALFORMATION SYNDROME; MUSCLE HYPOTONIA; NEVUS; OPTIC NERVE HYPOPLASIA; PACHYGYRIA; PHENOTYPE; PIGEON THORAX; PREMATURITY; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; REFRACTION ERROR; SCANTY HAIR; SCHOOL CHILD; SCOLIOSIS; SEIZURE; SENSORY DEFENSIVENESS; SHORT STATURE; SKIN; STRABISMUS;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; ECTODERMAL DYSPLASIA; FACIES; FAILURE TO THRIVE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MAP KINASE KINASE 1; MAP KINASE KINASE 2; MUTATION; PHENOTYPE; PROTO-ONCOGENE PROTEINS B-RAF; PULMONARY VALVE STENOSIS;

EID: 79954997162     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.30295     Document Type: Article

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