Genetic & Genomic MedicineMolecular Case StudiesPeer-reviewed
Autosomal recessive SLC30A9 Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity
Robert S. Kleyner, Mohd Arif, Elaine J. Marchi…·Gholson J. Lyon
This paper reports a non-consanguineous family with autosomal recessive SLC30A9 mutations associated with a cerebro-renal syndrome and conducts a limited population allele frequency analysis.
8 citations