PTPN11 gene mutation in LEOPARD syndrome;Mutazione del gene PTPN11 nella sindrome LEOPARD

Minerva Pediatrica

Volumn 57, Issue 4, 2005, Pages 189-193

  Paradisi, M ^a   Pedicelli, C ^a   Ciasulli, A ^a   Pinto, F ^a   Conti, E ^b   Sarkozy, A ^b   Angelo, C ^a  

^a LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Cardiomyopathy; Deafness; Leopard syndrome; Multiple lentigines; PTPN11 gene; Pulmonary stenosis

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CONGENITAL HEART DISEASE; ELECTROCARDIOGRAM; FACE DYSMORPHIA; FAMILIAL DISEASE; GENE; GENE MUTATION; GENE SEQUENCE; GROWTH RETARDATION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; HUMAN TISSUE; LENTIGINOSIS; LEOPARD SYNDROME; MISSENSE MUTATION; MOLECULAR GENETICS; NOONAN SYNDROME; PTPN11 GENE; RARE DISEASE; SYSTOLIC HEART MURMUR;

CHILD, PRESCHOOL; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LEOPARD SYNDROME; POINT MUTATION; PROTEIN-TYROSINE-PHOSPHATASE;

EID: 27844527882     PISSN: 00264946     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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