Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.
Boccone
Loredana
L
Ospedale Regionale Microcitemie, ASL 8, Cagliari, Italy. lboccone@mcweb.unica.it
Dessì
Valentina
V
Serra
Gigliola
G
Zibordi
Federica
F
Loudianos
Georgios
G
D001483:Base Sequence; D002386:Cataract / Q000151:congenital* / Q000503:physiopathology; D002648:Child; D016384:Consensus Sequence; D006223:Hamartoma Syndrome, Multiple / Q000150:complications / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics*; D012326:RNA Splicing
D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human