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X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene
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 facilities. Our w...
Autores principales: | Chouk, Hamza, Saad, Sarra, Dimassi, Sarra, Fetoui, Nadia Ghariani, Bennour, Ayda, Gammoudi, Rima, Elmabrouk, Haifa, Saad, Ali, Denguezli, Mohamed, H’mida, Dorra |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9317125/ https://www.ncbi.nlm.nih.gov/pubmed/35883075 http://dx.doi.org/10.1186/s12920-022-01319-4 |
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