Article

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

2022-05-10

Abstract excerpt

<h4>Introduction: </h4> X-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene (OMIM # 300747). Adopted XLI molecular diagnosis approaches differ from one laboratory to another depending on available technical facilities. Our work aims to figure out a sound diagnostic strategy for XLI.Patients and Methods: We collected 8 patients wit...

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Literature Corpus work: 7edb3a49-db4e-5d26-9961-587f675141b3
DOI: 10.21203/rs.3.rs-1498287/v2

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X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogeneDOI 10.21203/rs.3.rs-1498287/v2Read

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