Identification of novel compound heterozygous variants in the SLC30A7 (ZNT7) gene in two French brothers with stunted growth, testicular hypoplasia and bone marrow failure.
Huang L, Yang Z, Kirschke CP, Prouteau C, Copin MC, Bonneau D, Pellier I, Coutant R, Miot C, Ziegler A. Hum Mol Genet. 2023 Jun 5; 32(12):2016-2031.