Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome

European Journal of Human Genetics

Volumn 17, Issue 4, 2009, Pages 420-425

  Neumann, Thomas E ^a   Allanson, Judith ^b   Kavamura, Ines ^c   Kerr, Bronwyn ^d   Neri, Giovanni ^e   Noonan, Jacqueline ^f   Cordeddu, Viviana ^g   Gibson, Kate ^h   Tzschach, Andreas ⁱ   Krüger, Gabriele ^j   Hoeltzenbein, Maria ⁱ   Goecke, Timm O ^k   Kehl, Hans Gerd ^a   Albrecht, Beate ^l   Luczak, Klaudiusz ^m   Sasiadek, Maria M ^m   Musante, Luciana ⁱ   Laurie, Rohan ⁿ   Peters, Hartmut ^o   Tartaglia, Marco ^g   Zenker, Martin ^p   Kalscheuer, Vera ⁱ   more..

^a UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^d ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^e CATHOLIC UNIVERSITY   (Italy)

^f UNIVERSITY OF KENTUCKY   (United States)

^g ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^h ROYAL CHILDREN'S HOSPITAL   (Australia)

ⁱ MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^j ROSTOCK UNIVERSITY MEDICAL CENTER   (Germany)

^k UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^l UNIVERSITY HOSPITAL ESSEN   (Germany)

^m WROCLAW MEDICAL UNIVERSITY   (Poland)

ⁿ Mater Health Services   (Australia)

^o CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^p UNIVERSITY HOSPITAL ERLANGEN   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; MITOGEN ACTIVATED PROTEIN KINASE; MITOGEN ACTIVATED PROTEIN KINASE KINASE 1; RAS PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CARDIOFACIOCUTANEOUS SYNDROME; CHILD; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC PREDISPOSITION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MULTIPLE GIANT CELL LESION; MUTATIONAL ANALYSIS; NOONAN SYNDROME; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; COHORT STUDIES; FEMALE; GIANT CELLS; HEART DISEASES; HUMANS; MALE; MAP KINASE SIGNALING SYSTEM; MUTATION; NOONAN SYNDROME; PHENOTYPE; RAS PROTEINS; SKIN DISEASES; SYNDROME;

EID: 62849124342     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.188     Document Type: Article

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