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Variants of Anterior Segment Dysgenesis and Cerebral Involvement in a Large Family With a Novel COL4A1 Mutation

✍ Scribed by Rødahl, Eyvind; Knappskog, Per M.; Majewski, Jacek; Johansson, Stefan; Telstad, Wenche; Kråkenes, Jostein; Boman, Helge


Book ID
122917097
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
815 KB
Volume
155
Category
Article
ISSN
0002-9394

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Maturity-onset diabetes of the young (MODY) is a subtype of early-onset diabetes mellitus which is characterized by autosomal dominant inheritance. Several genes are known to induce MODY : HNF4A/MODY1, GCK/MODY2, TCF1/MODY3, IPF1/MODY4, TCF2/MODY5 and NEUROD1/MODY6. We studied a Swiss family with 13