Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region
Open Access
- 3 December 2002
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 10 (12) , 807-812
- https://doi.org/10.1038/sj.ejhg.5200890
Abstract
No abstract availableKeywords
This publication has 24 references indexed in Scilit:
- National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiologyJournal of Medical Genetics, 2002
- A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15American Journal of Human Genetics, 2000
- Human microphthalmia associated with mutations in the retinal homeobox gene CHX10Nature Genetics, 2000
- Waardenburg anophthalmia syndrome: Report and reviewAmerican Journal of Medical Genetics, 2000
- Regional variation in blindness in children due to microphthalmos, anophthalmos and colobomaOphthalmic Epidemiology, 2000
- Genomic Cloning and Characterization of the Human Homeobox Gene SIX6 Reveals a Cluster of SIX Genes in Chromosome 14 and Associates SIX6 Hemizygosity with Bilateral Anophthalmia and Pituitary AnomaliesGenomics, 1999
- Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32British Journal of Ophthalmology, 1999
- Clinical anophthalmia: An epidemiological study in Northeast Italy based on 368,256 consecutive birthsTeratology, 1992
- X-linked clinical anophthalmos Localization of the gene to Xq27-Xq28Ophthalmic Paediatrics and Genetics, 1991
- The Lenz Microphthalmia SyndromeAmerican Journal of Ophthalmology, 1988