Associated Papers
Expanding the Phenotype of Syndromic SLC30A9-Associated Disease.
Wagner NE et al.
American Journal of Medical Genetics. Part A, 2025
SLC30A9: an evolutionarily conserved mitochondrial zinc transporter essential for mammalian early embryonic development.
Ge J et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Migliavacca MP et al.
American Journal of Medical Genetics. Part A, 2024
Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.
Steel DBD et al.
Neurology, 2023
Autosomal recessive SLC30A9 variants in a proband with a cerebrorenal syndrome and no parental consanguinity.
Kleyner R et al.
Cold Spring Harbor Molecular Case Studies, 2022
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