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JCI Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome
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JCI Recessive TMEM167A variants cause neonatal diabetes, microcephaly, and epilepsy syndrome
Understanding the genetic causes of diseases that affect pancreatic β cells and neurons can give insights into pathways essential for both cell types. Microcephaly, epilepsy, and diabetes syndrome (MEDS) is a congenital disorder with two known etiological genes, IER3IP1 and YIPF5. Both genes encode proteins involved in endoplasmic reticulum (ER) to Golgi trafficking. We used genome sequencing to identify 6 individuals with MEDS caused by biallel…
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