Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4).
Berry
V
V
Department of Molecular Genetics, Institute of Ophthalmology, University College of London, London, UK.
Yang
Z
Z
Addison
P K F
PK
Francis
P J
PJ
Ionides
A
A
Karan
G
G
Jiang
L
L
Lin
W
W
Hu
J
J
Yang
R
R
Moore
A
A
Zhang
K
K
Bhattacharya
S S
SS
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D002386:Cataract / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D012008:Recurrence; D014157:Transcription Factors / Q000235:genetics*
D018398:Homeodomain Proteins; D014157:Transcription Factors; C433629:homeobox protein PITX3