Case report: Noonan syndrome with multiple giant cell lesions and review of the literature

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2283-2289

  Karbach, Julia ^a   Coerdt, Wiltrud ^a   Wagner, Wilfried ^a   Bartsch, Oliver ^b  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Multiple giant cell lesions; Noonan syndrome; PTPN11

Indexed keywords

ADENINE; ARGININE; B RAF KINASE; GLUTAMINE; GUANINE; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAF PROTEIN; RAS PROTEIN; RECOMBINANT GROWTH HORMONE; SOS PROTEIN;

ADOLESCENT; ARTICLE; BONE BIOPSY; BRAF1 GENE; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DISEASE ASSOCIATION; EXON; FIBROUS DYSPLASIA; FOLLOW UP; FUNNEL CHEST; GENE; GENETIC ANALYSIS; GIANT CELL GRANULOMA; HEART ATRIUM SEPTUM DEFECT; HUMAN; JAW MALFORMATION; LEOPARD SYNDROME; MALE; MANDIBLE FRACTURE; MAP2K1 GENE; MAXILLA FRACTURE; MOUTH EXAMINATION; MULTIPLE GIANT CELL LESION; MUTATIONAL ANALYSIS; NOONAN SYNDROME; NUCLEOTIDE SEQUENCE; PHENOTYPE; PIGEON THORAX; PRIORITY JOURNAL; PTPN11 GENE; PULMONARY VALVE STENOSIS; RAF1 GENE; SHORT STATURE; SIGNAL TRANSDUCTION; SOS1 GENE;

ADOLESCENT; GIANT CELLS; HUMANS; MALE; NOONAN SYNDROME;

EID: 84865544301     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35493     Document Type: Article

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