Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11

Clinical Genetics

Volumn 75, Issue 2, 2009, Pages 185-189

  Schrader, K A ^a,b   Nelson, T N ^a   De Luca, A ^b,c   Huntsman, D G ^b   Mcgillivray, B C ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b BRITISH COLUMBIA CANCER AGENCY   (Canada)

^c CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE; PROTEIN TYROSINE PHOSPHATASE NON RECEPTOR 11; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; DISEASE ASSOCIATION; EPISTAXIS; EXON; FEMALE; GENE DELETION; GENE LOCUS; GENE SEQUENCE; GENETIC ANALYSIS; GRANULAR CELL TUMOR; HEARING LOSS; HEART AUSCULTATION; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LEOPARD SYNDROME; MISSENSE MUTATION; MOLECULAR GENETICS; OTITIS MEDIA; PNEUMONIA; PRIORITY JOURNAL; PTOSIS; PULMONARY VALVE STENOSIS; RAYNAUD PHENOMENON; SKIN TUMOR; SUBCUTANEOUS TISSUE TUMOR; SYSTOLIC HEART MURMUR;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; GRANULAR CELL TUMOR; HUMANS; LEOPARD SYNDROME; LOSS OF HETEROZYGOSITY; MUTATION, MISSENSE; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11;

EID: 58849157932     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01100.x     Document Type: Article

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