Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
Slavotinek
Anne
A
Department of Pediatrics, University of California, San Francisco, 94143-0748, USA. slavotia@peds.ucsf.edu
Crawford
Howard
H
Golabi
Mahin
M
Tao
Cathy
C
Perry
Hazel
H
Oberoi
Sneha
S
Vargervik
Karin
K
Friez
Michael
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D005145:Face; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D013577:Syndrome
C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2