Studies on the pathogenesis of Costello syndrome.
Mancini
G M S
GM
van Diggelen
O P
OP
Kleijer
W J
WJ
Di Rocco
M
M
Farina
V
V
Yuksel-Apak
M
M
Kayserili
H
H
Halley
D J J
DJ
D000015:Abnormalities, Multiple / Q000209:etiology / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D008297:Male; D011110:Polymorphism, Genetic; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D012868:Skin Abnormalities / Q000473:pathology; D013577:Syndrome
D017468:Receptors, Fibroblast Growth Factor; D004247:DNA; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3