PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans
SM Sisodiya, SL Free, KA Williamson, TN Mitchell… - Nature …, 2001 - nature.com
SM Sisodiya, SL Free, KA Williamson, TN Mitchell, C Willis, JM Stevens, BE Kendall…
Nature genetics, 2001•nature.comPAX6 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 1. 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.
human aniridia cause defects that would seem to be confined to the eye 1. 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.
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 1. 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.
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