Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome. Virgilio E, Tielens S, Bonfield G, Nian FS, et al. J Clin Invest 2025 Sep 9:e195756. doi: 10.1172/JCI195756.

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Amedeo Smart

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Virgilio E, Tielens S, Bonfield G, Nian FS, et al. Recessive TMEM167A variants cause neonatal diabetes, microcephaly and epilepsy syndrome. J Clin Invest 2025 Sep 9:e195756. doi: 10.1172/JCI195756.
PMID: 40924476