The transcription factor FOXN1 acts in a gene-dosage sensitive way as a master regulator of thymic epithelial cell development and maintenance enabling effective thymopoiesis. Its autosomal recessive
In this study, we sought to identify the genetic causes of Mayer-Rokitansky-Küster-Hauser syndrome in monozygotic discordant twins using whole genome sequencing of blood of twin pairs as well as ut
