The diagnosis of Costello syndrome: Nomenclature in Ras/MAPK pathway disorders

American Journal of Medical Genetics, Part A

Volumn 146, Issue 9, 2008, Pages 1218-1220

  Kerr, Bronwyn ^a   Allanson, Judith ^b   Delrue, Marie Ange ^c   Gripp, Karen W ^d   Lacombe, Didier ^c   Lin, Angela E ^e   Rauen, Katherine A ^f  

^a MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^b CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^c BORDEAUX UNIVERSITY HOSPITAL   (France)

^d NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE; RAS PROTEIN;

CLINICAL FEATURE; COSTELLO SYNDROME; DIAGNOSTIC ACCURACY; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; GENE IDENTIFICATION; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LETTER; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; RISK ASSESSMENT;

ABNORMALITIES, MULTIPLE; DIAGNOSIS, DIFFERENTIAL; FACE; GENES, RAS; HEART DEFECTS, CONGENITAL; HUMANS; MAP KINASE SIGNALING SYSTEM; MUTATION; PHENOTYPE; SKIN ABNORMALITIES; SYNDROME; TERMINOLOGY AS TOPIC;

EID: 43049092257     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32273     Document Type: Letter

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