A mutation in FGFR2 in a child with Pfeiffer syndrome and a sacral appendage.
Lai
Angeline H M
AHM
DNA Diagnostic and Research Laboratory Genetics Service, Department of Paediatric Medicine Plastic, Reconstructive and Aesthetic Surgery, KK Women's and Children's Hospital, Singapore.
Tan
Yuen-Ming
YM
Law
Hai-Yang
HY
Yeow
Vincent K L
VKL
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