Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus

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 autosom...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795203/
https://ncbi.nlm.nih.gov/pubmed/26264437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.161
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