TY  - GEN
AU  - Sale,Michèle M
AU  - Craig,Jamie E
AU  - Charlesworth,Jacinta C
AU  - FitzGerald,Liesel M
AU  - Hanson,Isabel M
AU  - Dickinson,Joanne L
AU  - Matthews,Sarah J
AU  - Heyningen Vv,Veronica van
AU  - Fingert,John H
AU  - Mackey,David A
TI  - Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene
SN  - 1098-1004
PY  - 2003///0103
KW  - Aniridia
KW  - genetics
KW  - Cytosine
KW  - DNA Mutational Analysis
KW  - Eye Proteins
KW  - Female
KW  - Genetic Variation
KW  - Homeodomain Proteins
KW  - Humans
KW  - Male
KW  - Mutation
KW  - PAX6 Transcription Factor
KW  - Paired Box Transcription Factors
KW  - Pedigree
KW  - Phenotype
KW  - Repressor Proteins
KW  - Sequence Deletion
KW  - Transcription Factors
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1002/humu.9066
ER  -