Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence

European Journal of Medical Genetics

Volumn 52, Issue 5, 2009, Pages 337-340

  Koudova, Monika ^a   Seemanova, Eva ^a   Zenker, Martin ^b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

BRAF; Cardio facio cutaneous syndrome; LEOPARD syndrome; Mitogen activated protein kinases; Noonan syndrome

Indexed keywords

B RAF KINASE;

ADOLESCENT; ANAMNESIS; ARTICLE; CASE REPORT; CHROMATOGRAPHY; FALLOT TETRALOGY; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INTELLIGENCE; LEOPARD SYNDROME; MALE; MOSAICISM; PHENOTYPE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CONSERVED SEQUENCE; DNA; DNA MUTATIONAL ANALYSIS; FACIES; HEART DEFECTS, CONGENITAL; HUMANS; LEOPARD SYNDROME; LEUCINE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NOONAN SYNDROME; PROTO-ONCOGENE PROTEINS B-RAF; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 68949116127     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.04.006     Document Type: Article

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