title: Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
authors.affiliation: Academic Unit of Medical Genetics and Regional Genetics Service, St. Mary's Hospital, Manchester, United Kingdom.
authors.forename: Jill
authors.initials: J
authors.lastname: Yardley
authors.forename: Bart P
authors.initials: BP
authors.lastname: Leroy
authors.forename: Niki
authors.initials: N
authors.lastname: Hart-Holden
authors.forename: Bart A
authors.initials: BA
authors.lastname: Lafaut
authors.forename: Bart
authors.initials: B
authors.lastname: Loeys
authors.forename: Ludwine M
authors.initials: LM
authors.lastname: Messiaen
authors.forename: Rahat
authors.initials: R
authors.lastname: Perveen
authors.forename: M Ashwin
authors.initials: MA
authors.lastname: Reddy
authors.forename: Shomi S
authors.initials: SS
authors.lastname: Bhattacharya
authors.forename: Elias
authors.initials: E
authors.lastname: Traboulsi
authors.forename: Diana
authors.initials: D
authors.lastname: Baralle
authors.forename: Jean-Jacques
authors.initials: JJ
authors.lastname: De Laey
authors.forename: Bernard
authors.initials: B
authors.lastname: Puech
authors.forename: Philippe
authors.initials: P
authors.lastname: Kestelyn
authors.forename: Anthony T
authors.initials: AT
authors.lastname: Moore
authors.forename: Forbes D C
authors.initials: FD
authors.lastname: Manson
authors.forename: Graeme C M
authors.initials: GC
authors.lastname: Black
mesh_terms: D000075002:Bestrophins; D018118:Chloride Channels; D015862:Choroid Diseases / Q000235:genetics*; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005128:Eye Diseases / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012326:RNA Splicing / Q000235:genetics*; D012164:Retinal Diseases / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014822:Vitreous Body
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins