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Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Human Molecular Genetics

May 15, 2014

Daniel KelbermanJane C Sowden

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Abstract

Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation i...read more

Mentioned in this Paper

Transcription factor genes
Mice, Inbred C57BL
Gene Expression
DNA Mutational Analysis
Mutation, Nonsense
Deficiency Diseases
Eye Proteins
Lesion of Retina
PAX2 gene
Benign Neoplasm of Retina
1
51
Paper Details
References
  • References68
  • Citations12
12

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

Human Molecular Genetics

May 15, 2014

Daniel KelbermanJane C Sowden

PMID: 24412933

DOI: 10.1093/hmg/ddt643

Abstract

Ocular coloboma is a congenital defect resulting from failure of normal closure of the optic fissure during embryonic eye development. This birth defect causes childhood blindness worldwide, yet the genetic etiology is poorly understood. Here, we identified a novel homozygous mutation i...read more

Mentioned in this Paper

Transcription factor genes
Mice, Inbred C57BL
Gene Expression
DNA Mutational Analysis
Mutation, Nonsense
1
51

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Paper Details
References
  • References68
  • Citations12
12

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