FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome.
Krepelová
A
A
Baxová
A
A
Calda
P
P
Plavka
R
R
Kapras
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D003398:Craniosynostoses / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D013577:Syndrome
D017468:Receptors, Fibroblast Growth Factor