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

Molecular and Cellular Probes - Tập 30 - Trang 18-21 - 2016
Fatma Bastaki1, Madiha Mohamed1, Pratibha Nair2, Fatima Saif1, Nafisa Tawfiq1, Mahmoud Taleb Al-Ali2, Oliver Brandau3, Abdul Rezzak Hamzeh2
1Pediatric Department, Latifa Hospital, Dubai Health Authority, Dubai, United Arab Emirates
2Centre for Arab Genomic Studies, Dubai, United Arab Emirates
3Centogene AG, Schillingallee 68, Rostock 18057, Germany

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