Article
Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene.
Molecular vision - 1 Jan 2015
Orosz Orsolya, Czeglédi Miklós, Kántor Irén, Balogh István, Vajas Attila, Takács Lili, Berta András, Losonczy Gergely
Abstract excerpt
PURPOSE: NEUROD1 is a tissue-specific basic helix loop helix (bHLH) protein involved in the development and maintenance of the endocrine pancreas and neuronal elements. Loss of NEUROD1 causes ataxia, cerebellar hypoplasia, sensorineural deafness, and severe retinal dystrophy in mice. Heterozygous loss-of-function mutations in NEUROD1 have previously been described as a cause of maturity-onset diabetes of the...
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