Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation.
a Department of Ophthalmology , University of Texas Southwestern Medical Center , Dallas , Texas , USA.
Ujwala S
US
Saboo
b Srikiran Institute of Ophthalmology , Kakinada , Andhra Pradesh , India.
Devi
D
Penke
b Srikiran Institute of Ophthalmology , Kakinada , Andhra Pradesh , India.
Avinash
A
Mahindrakar
b Srikiran Institute of Ophthalmology , Kakinada , Andhra Pradesh , India.
Madhu
M
Uddaraju
b Srikiran Institute of Ophthalmology , Kakinada , Andhra Pradesh , India.
Chandrasekhar
C
Sankurathri
a Department of Ophthalmology , University of Texas Southwestern Medical Center , Dallas , Texas , USA.
Xin
X
Gong
c McDermott Center for Human Growth and Development/Center for Human Genetics , University of Texas Southwestern Medical Center , Dallas , Texas , USA.
Chao
C
Xing
a Department of Ophthalmology , University of Texas Southwestern Medical Center , Dallas , Texas , USA.|b Srikiran Institute of Ophthalmology , Kakinada , Andhra Pradesh , India.|c McDermott Center for Human Growth and Development/Center for Human Genetics , University of Texas Southwestern Medical Center , Dallas , Texas , USA.
V Vinod
VV
Mootha
D001483:Base Sequence; D002924:Ciliary Body / Q000473:pathology*; D003241:Consanguinity; D004108:Dilatation, Pathologic / Q000235:genetics; D059472:Exome / Q000235:genetics; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D017422:Sequence Analysis, DNA; D014603:Uveal Diseases / Q000175:diagnosis / Q000235:genetics*
C404285:FOXE3 protein, human; D051858:Forkhead Transcription Factors