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
Purpose: To identify and compare all the cell subsets present in Normal and 22q11.2 DS Hypoplastic thymus We have identified 17 distinct cell clusters in normal e13 embronic thymus. While both normal
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