A complex structural variant near SOX3 causes X-linked split-hand/foot malformation

Autor: de Boer, Elke, Marcelis, Carlo, Neveling, Kornelia, van Beusekom, Ellen, Hoischen, Alexander, Klein, Willemijn M., de Leeuw, Nicole, Mantere, Tuomo, Melo, Uirá S., van Reeuwijk, Jeroen, Smeets, Dominique, Spielmann, Malte, Kleefstra, Tjitske, van Bokhoven, Hans, Vissers, Lisenka E.L.M.
Zdroj: In Human Genetics and Genomics Advances 13 July 2023 4(3)
Databáze: ScienceDirect