Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg).
Andreou
Andréas
A
Department of Urology, Rouen University Hospital, Rouen, France.
Lamy
Aude
A
Layet
Valérie
V
Cailliez
Daniel
D
Gobet
Françoise
F
Pfister
Christian
C
Menard
Michel
M
Frebourg
Thierry
T
D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000473:pathology; D002291:Carcinoma, Papillary / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D001749:Urinary Bladder Neoplasms / Q000235:genetics* / Q000473:pathology
C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2