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PMID: 16283891 Published · ppublish English Case Reports Letter Research Support, Non-U.S. Gov't

Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.

Clinical genetics ·Vol. 68 ·No. 6 ·2005-12-00 ·Pages 564-6

Zenteno JC, Gascon-Guzman G, Tovilla-Canales JL

Abstract

暂无摘要

MeSH Terms

Abnormalities, Multiple/genetics Anophthalmos/genetics,pathology Base Sequence/genetics Brain/abnormalities Female HMGB Proteins/genetics Humans Infant Models, Genetic Molecular Sequence Data SOXB1 Transcription Factors Sequence Analysis, DNA Sequence Deletion/genetics Transcription Factors/genetics

Chemicals

HMGB Proteins SOX2 protein, human SOXB1 Transcription Factors Transcription Factors

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Zenteno J C

Gascon-Guzman G

Tovilla-Canales J L

Article Info

Journal

Clinical genetics

Abbr.

Clin Genet

ISSN

0009-9163

DOI

10.1111/j.1399-0004.2005.00518.x

Published

2005-12-00

Pages

564-6

Language

English

Region

Denmark

NLM ID

0253664

Subset

External Links

PubMed source DOI: 10.1111/j.1399-0004.2005.00518.x View journal details

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Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene.

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