Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.
Priolo
M
M
Lerone
M
M
Baffico
M
M
Baldi
M
M
Ravazzolo
R
R
Cama
A
A
Capra
V
V
Silengo
M
M
D000168:Acrocephalosyndactylia / Q000235:genetics*; D000595:Amino Acid Sequence; D004252:DNA Mutational Analysis; D006801:Humans; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D017384:Sequence Deletion
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2