Associated Papers
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
De Franco E et al.
The Journal of Clinical Investigation, 2020
33164986 (PubMed )
Supplement: jci-130-141455-s463.pdf
Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.
Mouden C et al.
Plos One, 2015
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