Two cases of LEOPARD syndrome - RAF1 mutations firstly described in children

Turkish Journal of Pediatrics

Volumn 53, Issue 6, 2011, Pages 687-691

  Kuburović, Vladimir ^a   Vukomanović, Vladislav ^a   Carcavilla, Atilano ^b   Ezquieta Zubicaray, Begona ^c   Kuburović, Nina ^a  

^a Mother and Child Health Care Institute   (Serbia)

^b HOSPITAL VIRGEN DE LA SALUD   (Spain)

^c HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

Author keywords

LEOPARD syndrome; Obstructive hypertrophic cardiomyopathy; P.ser257Leu mutation; P.ser259Leu mutation; RAF1

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; RAF PROTEIN;

ARTICLE; CAFE AU LAIT SPOT; CASE REPORT; CHILD; CONVULSION; EXON; FACE MALFORMATION; FEMALE; FUNNEL CHEST; GENE MUTATION; GENETIC ANALYSIS; HEART ATRIUM SEPTUM DEFECT; HEART FAILURE; HEART LEFT VENTRICLE HYPERTROPHY; HEART RIGHT BUNDLE BRANCH BLOCK; HEART RIGHT VENTRICLE OUTFLOW TRACT OBSTRUCTION; HEART VENTRICLE EXTRASYSTOLE; HETEROZYGOTE; HOLTER MONITORING; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; INFANT; KARYOTYPE 46,XX; KYPHOSIS; LEOPARD SYNDROME; MENTAL DEFICIENCY; MITRAL VALVE REGURGITATION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; PIGMENTED NEVUS; PRESCHOOL CHILD; PTOSIS; PTPN11 GENE; PULMONARY VALVE INSUFFICIENCY; RAF1 GENE; SCHOOL CHILD; SCOLIOSIS; SERBIA; SUPRAVENTRICULAR PREMATURE BEAT; SUPRAVENTRICULAR TACHYCARDIA; TRICUSPID VALVE REGURGITATION; GENETICS; MUTATION;

CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; LEOPARD SYNDROME; MUTATION; PROTO-ONCOGENE PROTEINS C-RAF;

EID: 84858726246     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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