Beare-Stevenson cutis gyrata syndrome with Chiari malformation.
Wang
T J
TJ
Department of Pediatrics, Kaohsiung Chang-Gung Memorial Hospital, Niao-Sung Siang, Kaohsiung Sheng, Taiwan.
Hung
K S
KS
Chen
P K T
PK
Chuang
W L
WL
Shih
T Y
TY
Lai
B J P
BJ
Hsiao
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics; D001139:Arnold-Chiari Malformation / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D003553:Cystine / Q000235:genetics; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D011183:Postoperative Complications / Q000175:diagnosis / Q000601:surgery; D011247:Pregnancy; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D012086:Reoperation; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014443:Tyrosine / Q000235:genetics; D016216:Ultrasonography, Prenatal
D017468:Receptors, Fibroblast Growth Factor; D014443:Tyrosine; D003553:Cystine; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2