Autosomal recessive SLC30A9 Mutations in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity
Robert S. Kleyner, Mohd Arif, Elaine J. Marchi, Naomi Horowitz, A. Haworth, Brian King, Karen Amble, Maureen Gavin, Milen T. Velinov, 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.
Molecular Case Studies · Oct 29, 2021Peer-reviewedGenetic & Genomic Medicine