Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
McGillivray
G
G
Savarirayan
R
R
Cox
T C
TC
Stojkoski
C
C
McNeil
R
R
Bankier
A
A
Bateman
J F
JF
Roscioli
T
T
Gardner
R J M
RJ
Lamandé
S R
SR
D000015:Abnormalities, Multiple / Q000235:genetics*; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D010375:Pedigree; D017434:Protein Structure, Tertiary / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000737:chemistry / Q000235:genetics*; D012886:Skull / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome
C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2