Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome. Issue 5 (23rd February 2018) - Lin, Yunting
Abstract : Confirmatory Sanger sequencing of whole exome sequencing first identified a somatic and germline FOXP3 mosaicism with two different mutational events of c.210 + 1G > T and c.210 + 1G > A in the mother of a boy with IPEX syndrome.