| Literature DB >> 11431688 |
S M Sisodiya1, S L Free, K A Williamson, T N Mitchell, C Willis, J M Stevens, B E Kendall, S D Shorvon, I M Hanson, A T Moore, V van Heyningen.
Abstract
PAX6 is widely expressed in the central nervous system. Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to the eye. Magnetic resonance imaging (MRI) and smell testing reveal the absence or hypoplasia of the anterior commissure and reduced olfaction in a large proportion of aniridia cases, which shows that PAX6 haploinsuffiency causes more widespread human neuro developmental anomalies.Entities:
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Year: 2001 PMID： 11431688 DOI： 10.1038/90042
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330