title: Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.
authors: Ospedale Regionale Microcitemie, ASL 8, Cagliari, Italy. lboccone@mcweb.unica.it
authors: Loredana
authors: L
authors: Boccone
authors: Valentina
authors: V
authors: Dessì
authors: Gigliola
authors: G
authors: Serra
authors: Federica
authors: F
authors: Zibordi
authors: Georgios
authors: G
authors: Loudianos
mesh_terms: 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
chemical_list: D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human