Article
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus.
European journal of human genetics : EJHG - 1 Dec 2015
Sansbury Francis H, Kirel Birgül, Caswell Richard, Allen Hana Lango, Lango Allen Hana, Flanagan Sarah E, Hattersley Andrew T, Ellard Sian, Shaw-Smith Charles J
Abstract excerpt
Neonatal diabetes is a highly genetically heterogeneous disorder. There are over 20 distinct syndromic and non-syndromic forms, including dominant, recessive and X-linked subtypes. Biallelic truncating or mis-sense mutations in the DNA-binding domain of the RFX6 transcription factor cause an autosomal recessive, syndromic form of neonatal diabetes previously described as Mitchell-Riley syndrome. In all, eight...
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