X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene

• Main Authors: Hamza Chouk (Author), Sarra Saad (Author), Sarra Dimassi (Author), Nadia Ghariani Fetoui (Author), Ayda Bennour (Author), Rima Gammoudi (Author), Haifa Elmabrouk (Author), Ali Saad (Author), Mohamed Denguezli (Author), Dorra H'mida (Author)
• 格式: 图书
• 出版: BMC, 2022-07-01T00:00:00Z.
• 主题: article
• 在线阅读: Connect to this object online.

Abstract Introduction X-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene (OMIM # 300,747). Adopted XLI molecular diagnosis approaches differ from one laboratory to another depending on available technical facilitie...