The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders.
Kerr
Bronwyn
B
Regional Genetic Service and Medical Genetics Research Group, Central Manchester and Manchester Children's Hospitals University NHS Trust, Manchester, UK. bronwyn.kerr@cmmc.nhs.uk
Allanson
Judith
J
Delrue
Marie Ange
MA
Gripp
Karen W
KW
Lacombe
Didier
D
Lin
Angela E
AE
Rauen
Katherine A
KA
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D011905:Genes, ras; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D020935:MAP Kinase Signaling System; D009154:Mutation; D010641:Phenotype; D012868:Skin Abnormalities / Q000175:diagnosis / Q000235:genetics; D013577:Syndrome; D009626:Terminology as Topic