https://www.selleckchem.com/products/AZD0530.html
To analyze the genetic cause of a hearing loss child with the Treacher Collins syndrome (TCS) phenotypes of malar hypoplasia, micrognathia, antimongoloid slanting palpebral fissures and cup ears. Clinical analysis, hearing tests, chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were performed on the family members. The 6 months old boy with a range of Treacher Collins syndrome phenotypes including malar hypoplasia, micrognathia, antimongoloid slanting palpebral fissures, cup ears, and hearing loss. While CMA analys
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