Article
Genotype/phenotype association in Indian congenital aniridia.
Indian journal of pediatrics - 1 May 2009
Neethirajan Guruswamy, Solomon Abraham, Krishnadas Subbaiah Ramasamy, Vijayalakshmi Perumalsamy, Sundaresan Periasamy
Abstract excerpt
The developmental birth eye disorder of iris is known as aniridia. Heterozygous PAX6 gene, which causes human aniridia and small eye in mice, is located on chromosome 11p13. The variability had been documented between the affected individuals within the families, is due to genotypic variation. Haploinsufficiency renders PAX6 allele non-functional or amorphic, however it presents hypomorphic or neomorphic alleles....
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