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

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

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...

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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)
Format: Book
Published: BMC, 2022-07-01T00:00:00Z.
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