A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.
Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA.
K O
KO
Yariz
Y B
YB
Sakalar
X
X
Jin
J
J
Hertz
E F
EF
Sener
H
H
Akay
M N
MN
Özbek
A
A
Farooq
J
J
Goldberg
M
M
Tekin
D000293:Adolescent; D001284:Atrophy / Q000235:genetics* / Q000473:pathology; D002454:Cell Differentiation / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D009901:Optic Nerve Diseases / Q000235:genetics* / Q000473:pathology; D012165:Retinal Ganglion Cells / Q000473:pathology; D015534:Trans-Activators / Q000235:genetics*
D018398:Homeodomain Proteins; C491945:SIX6 protein, human; D015534:Trans-Activators