Associated Papers
A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey
Söbü E et al.
Journal of Clinical Research in Pediatric Endocrinology, 2024
IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport.
Anitei M et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Safe use of the ketogenic diet in an infant with microcephaly, epilepsy, and diabetes syndrome: a case report.
Zegarra WA et al.
Bmc Pediatrics, 2023
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
Shalev SA et al.
Pediatric Diabetes, 2014
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