Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations inIER3IP1: insights into the natural history of a rare disorder

Abstract excerpt

Neonatal diabetes mellitus is known to have over 20 different monogenic causes. A syndrome of permanent neonatal diabetes along with primary microcephaly with simplified gyral pattern associated with severe infantile epileptic encephalopathy was recently described in two independent reports in which disease-causing homozygous mutations were identified in the immediate early response-3 interacting protein-1...

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