VSX2 in microphthalmia: a novel splice site mutation producing a severe microphthalmia phenotype.
Burkitt Wright
Emma M M
EM
Perveen
Rahat
R
Bowers
Naomi
N
Ramsden
Simon
S
McCann
Emma
E
O'Driscoll
Mary
M
Lloyd
I Chris
IC
Clayton-Smith
Jill
J
Black
Graeme C M
GC
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*
D018398:Homeodomain Proteins; D022821:RNA Splice Sites; D014157:Transcription Factors; C490289:VSX2 protein, human