LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria

European Journal of Pediatrics

Volumn 170, Issue 8, 2011, Pages 1069-1074

  Carcavilla, Atilano ^a,c,f   Pinto, Isabel ^b   Muñoz Pacheco, Rafael ^c   Barrio, Raquel ^d   Martin Frías, Maria ^d   Ezquieta, Begoña ^c,e  

^a HOSPITAL VIRGEN DE LA SALUD   (Spain)

^b HOSPITAL SEVERO OCHOA   (Spain)

^c HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^d HOSPITAL RAMÓN Y CAJAL   (Spain)

^e CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^f NONE   (Spain)

Author keywords

Hypertrophic cardiomyopathy; LEOPARD syndrome; Multiple lentigines; Neurofibromatosis type 1; Noonan syndrome; PTPN11 gene; RAS MAPK pathway

Indexed keywords

NEUROFIBROMIN; PROTEIN TYROSINE PHOSPHATASE SHP 2;

ADOLESCENT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHILD; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DYSPLASTIC NEVUS; ECHOCARDIOGRAPHY; GENE MUTATION; HEAD CIRCUMFERENCE; HEART VENTRICLE HYPERTROPHY; HEIGHT; HUMAN; HYPERTELORISM; LEOPARD SYNDROME; MALE; NEUROFIBROMA; NEUROFIBROMATOSIS; NOONAN SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WOLFF PARKINSON WHITE SYNDROME;

ADOLESCENT; CHILD; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; HUMANS; INFANT; LEOPARD SYNDROME; MALE; NEUROFIBROMATOSIS 1; NOONAN SYNDROME; PEDIGREE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 79960956898     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-011-1418-5     Document Type: Article

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