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...

Descripción completa

Detalles Bibliográficos
Autores principales: Chouk, Hamza, Saad, Sarra, Dimassi, Sarra, Fetoui, Nadia Ghariani, Bennour, Ayda, Gammoudi, Rima, Elmabrouk, Haifa, Saad, Ali, Denguezli, Mohamed, H’mida, Dorra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
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

Ejemplares similares

Ejemplares similares