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Browsing Research Articles (Paediatrics and Child Health) by Author "Acosta, Fernanda"

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Dominant ER stress-inducing WFS1 mutations underlie a genetic syndrome of neonatal/infancy-onset diabetes, congenital sensorineural deafness, and congenital cataracts

De Franco, Elisa; Flanagan, Sarah E.; Yagi, Takuya; Abreu, Damien; Mahadevan, Jana; Johnson, Matthew B.; Jones, Garan; Acosta, Fernanda; Mulaudzi, M.C. (Mphelekedzeni); Lek, Ngee; Oh, Vera; Petz, Oliver; Caswell, Richard; Ellard, Sian; Urano, Fumihiko; Hattersley, Andrew T. (American Diabetes Association Inc., 2017-07)

Neonatal diabetes is frequently part of a complex syndrome with extra-pancreatic features: 18 genes causing syndromic neonatal diabetes have been identified to date. There remain patients with neonatal diabetes who have ...

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