title: VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype.
authors.forename: Emma M M
authors.initials: EM
authors.lastname: Burkitt Wright
authors.forename: Rahat
authors.initials: R
authors.lastname: Perveen
authors.forename: Naomi
authors.initials: N
authors.lastname: Bowers
authors.forename: Simon
authors.initials: S
authors.lastname: Ramsden
authors.forename: Emma
authors.initials: E
authors.lastname: McCann
authors.forename: Mary
authors.initials: M
authors.lastname: O'Driscoll
authors.forename: I Chris
authors.initials: IC
authors.lastname: Lloyd
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: Graeme C M
authors.initials: GC
authors.lastname: Black
mesh_terms: D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008850:Microphthalmos / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D022821:RNA Splice Sites / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; D022821:RNA Splice Sites; D014157:Transcription Factors; C490289:VSX2 protein, human