A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis–lymphedema–telangiectasia syndrome by Whole Exome Sequencing

Autor: Bastaki, Fatma, Mohamed, Madiha, Nair, Pratibha, Saif, Fatima, Tawfiq, Nafisa, Al-Ali, Mahmoud Taleb, Brandau, Oliver, Hamzeh, Abdul Rezzak
Zdroj: In Molecular and Cellular Probes February 2016 30(1):18-21
Databáze: ScienceDirect