title: New ocular phenotype associated with a mutation in the PAX2 gene.
authors.forename: F
authors.initials: F
authors.lastname: Beby
authors.forename: O
authors.initials: O
authors.lastname: Roche
authors.forename: P
authors.initials: P
authors.lastname: Cochat
authors.forename: B
authors.initials: B
authors.lastname: Ranchin
authors.forename: R
authors.initials: R
authors.lastname: Kohler
authors.forename: C
authors.initials: C
authors.lastname: Bonifas
authors.forename: M-P
authors.initials: MP
authors.lastname: Cordier
authors.forename: T
authors.initials: T
authors.lastname: Attie-Bitach
authors.forename: C
authors.initials: C
authors.lastname: Burillon
authors.forename: P
authors.initials: P
authors.lastname: Denis
mesh_terms: D002648:Child; D003103:Coloboma / Q000235:genetics / Q000503:physiopathology; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D007908:Lens, Crystalline / Q000473:pathology*; D009154:Mutation; D009900:Optic Nerve / Q000002:abnormalities*; D051762:PAX2 Transcription Factor / Q000235:genetics*; D010641:Phenotype; D051437:Renal Insufficiency / Q000235:genetics / Q000503:physiopathology; D014718:Vesico-Ureteral Reflux / Q000235:genetics / Q000503:physiopathology
chemical_list: D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human