Bilateral anophthalmia and brain malformations caused by a 20‐bp deletion in the SOX2 gene
- 4 October 2005
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 68 (6) , 564-566
- https://doi.org/10.1111/j.1399-0004.2005.00518.x
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- SOX2 anophthalmia syndromeAmerican Journal of Medical Genetics Part A, 2005
- CHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindredsHuman Genetics, 2004
- Interplay of Pax6 and SOX2 in lens development as a paradigm of genetic switch mechanisms for cell differentiationThe International Journal of Developmental Biology, 2004
- Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocorneaHuman Molecular Genetics, 2003
- Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor geneJournal of Human Genetics, 2003
- Mutations in SOX2 cause anophthalmiaNature Genetics, 2003
- National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiologyJournal of Medical Genetics, 2002
- PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defectsNature Genetics, 1994
- Classification of microphthalmos and coloboma.Journal of Medical Genetics, 1993
- Mechanisms of divergence and convergence of the human immunoglobulin α1 and α2 constant region gene sequencesCell, 1984