Exome sequencing reveals novel homozygous FOXE3 mutation in microphthalmos with staphylomatous malformation

Ophthalmic Genet. 2017 May-Jun;38(3):295-297. doi: 10.1080/13816810.2016.1217549. Epub 2016 Sep 26.

Authors

Ujwala S Saboo¹, Devi Penke², Avinash Mahindrakar², Madhu Uddaraju², Chandrasekhar Sankurathri², Xin Gong¹, Chao Xing³, V Vinod Mootha^{1

2

3}

Affiliations

¹ a Department of Ophthalmology , University of Texas Southwestern Medical Center , Dallas , Texas , USA.
² b Srikiran Institute of Ophthalmology , Kakinada , Andhra Pradesh , India.
³ c McDermott Center for Human Growth and Development/Center for Human Genetics , University of Texas Southwestern Medical Center , Dallas , Texas , USA.

PMID: 27669367
DOI: 10.1080/13816810.2016.1217549

No abstract available

Publication types

Letter

MeSH terms

Base Sequence
Ciliary Body / pathology*
Consanguinity
Dilatation, Pathologic / genetics
Exome / genetics
Female
Forkhead Transcription Factors / genetics*
Homozygote
Humans
Male
Microphthalmos / diagnosis
Microphthalmos / genetics*
Molecular Sequence Data
Mutation, Missense*
Pedigree
Sequence Analysis, DNA
Uveal Diseases / diagnosis
Uveal Diseases / genetics*

Substances

FOXE3 protein, human
Forkhead Transcription Factors