Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts

British Journal of Dermatology

Volumn 163, Issue 4, 2010, Pages 881-884

  Terao, M ^a   Sakai, N ^a   Higashiyama, S ^b   Kotobuki, Y ^a   Tanemura, A ^a   Wataya Kaneda, M ^a   Yutsudo, M ^b   Ozono, K ^a   Katayama, I ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b OSAKA UNIVERSITY   (Japan)

Author keywords

cardio facio cutaneous syndrome; LEOPARD syndrome; MAPK; RAS; RASopathies

Indexed keywords

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

ADOLESCENT; AORTA VALVE REGURGITATION; CARDIOFACIOCUTANEOUS SYNDROME; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; COSTELLO SYNDROME; GENE MUTATION; GENE SEQUENCE; HUMAN; LEOPARD SYNDROME; LETTER; MALE; MENTAL DEFICIENCY; MITRAL VALVE REGURGITATION; NOONAN SYNDROME; PRACTICE GUIDELINE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SKIN DISEASE; SKIN FIBROBLAST;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CRANIOFACIAL ABNORMALITIES; EXTRACELLULAR SIGNAL-REGULATED MAP KINASES; FIBROBLASTS; HEART DEFECTS, CONGENITAL; HUMANS; MALE; MAP KINASE KINASE 2; MUTATION; PHOSPHORYLATION; SKIN ABNORMALITIES; SYNDROME;

EID: 77957057885     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.09875.x     Document Type: Letter

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