A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage.
DNA Diagnostic and Research Laboratory Genetics Service, Department of Paediatric Medicine Plastic, Reconstructive and Aesthetic Surgery, KK Women's and Children's Hospital, Singapore.
Angeline H M
AHM
Lai
Yuen-Ming
YM
Tan
Hai-Yang
HY
Law
Vincent K L
VKL
Yeow
D000168:Acrocephalosyndactylia / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D012447:Sacrum / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed
C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2