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Oligogenic Origin of Differences of Sex Development in Humans

Int J Mol Sci. 2020-03-01; 
Núria Camats, Christa E Flück, Laura Audí
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Gene Synthesis … expression was studied for normal human adrenal and testicular tissues using cDNA samples purchased from amsbio (AMS Biotechnology (Europe) Limited … 2, new transcription start site in r.64, exon 2). This new WT construct was custom made by GenScript (Piscataway, NJ … Get A Quote

摘要

Sex development is a very complex biological event that requires the concerted collaboration of a large network of genes in a spatial and temporal correct fashion. In the past, much has been learned about human sex development from monogenic disorders/differences of sex development (DSD), but the broad spectrum of phenotypes in numerous DSD individuals remains a conundrum. Currently, the genetic cause of less than 50% of DSD individuals has been solved and oligogenic disease has been proposed. In recent years, multiple genetic hits have been found in individuals with DSD thanks to high throughput sequencing. Our group has been searching for additional genetic hits explaining the phenotypic variability over the ... More

关键词

46,XX DSD, 46,XY DSD, DSD, HTS, differences of sex development, high throughput sequencing techniques, hypospadias, oligogenic disease, oligogenicity
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