Dominant ER Stress–Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts

Neonatal diabetes is frequently part of a complex syndrome with extrapancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date. There are still patients with neonatal diabetes who have novel genetic syndromes. We performed exome sequencing in a patient and his un...

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Detaylı Bibliyografya
Yayımlandı:Diabetes
Asıl Yazarlar: De Franco, Elisa, Flanagan, Sarah E., Yagi, Takuya, Abreu, Damien, Mahadevan, Jana, Johnson, Matthew B., Jones, Garan, Acosta, Fernanda, Mulaudzi, Mphele, Lek, Ngee, Oh, Vera, Petz, Oliver, Caswell, Richard, Ellard, Sian, Urano, Fumihiko, Hattersley, Andrew T.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Diabetes Association 2017
Konular:
Genetics/Genomes/Proteomics/Metabolomics
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5482085/
https://ncbi.nlm.nih.gov/pubmed/28468959
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db16-1296
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