Article
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes.
Diabetes - 1 Aug 2017
Johnson Matthew B, De Franco Elisa, Lango Allen Hana, Al Senani Aisha, Elbarbary Nancy, Siklar Zeynep, Berberoglu Merih, Imane Zineb, Haghighi Alireza, Razavi Zahra, Ullah Irfan, Alyaarubi Saif, Gardner Daphne, Ellard Sian, Hattersley Andrew T, Flanagan Sarah E
Abstract excerpt
Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition, but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients' prognosis and clinical management. We sought to identify novel genetic causes of autoimmunity presenting with neonatal diabetes (NDM) (diagnosis <6 months). We performed exome sequencing in...
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