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2012
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2019
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Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
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S-EPMC3399931
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biostudies-literature
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Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
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S-EPMC3257879
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biostudies-literature
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Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice.
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S-EPMC6469254
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biostudies-literature
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