Article
Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6.
Psychiatric genetics - 1 Jun 1999
Heyman I, Frampton I, van Heyningen V, Hanson I, Teague P, Taylor A, Simonoff E
Abstract excerpt
The PAX family of developmental control genes are known to play important roles in the early patterning of the central nervous system. One member of this family, PAX6, is involved in eye development in invertebrates as well as in mouse and man, but is also widely expressed in the developing forebrain. Humans with a mutation in this gene have abnormalities of eye development, and the results presented here...
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