Search Results - "Elmabrouk, Haifa"

X-linked recessive ichthyosis in 8 Tunisian patients: awareness of misdiagnosis due to the technical trap of the STS pseudogene by Chouk, Hamza, Saad, Sarra, Dimassi, Sarra, Fetoui, Nadia Ghariani, Bennour, Ayda, Gammoudi, Rima, Elmabrouk, Haifa, Saad, Ali, Denguezli, Mohamed, H'mida, Dorra

“…Abstract Introduction X-linked recessive ichthyosis (XLI) is a genodermatosis, caused by a deficiency of the steroid sulphatase enzyme encoded by the STS gene…”
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Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene by Chouk, Hamza, Ben Rejeb, Mohamed, Boussofara, Lobna, Elmabrouk, Haїfa, Ghariani, Najet, Sriha, Badreddine, Saad, Ali, H'Mida, Dorra, Denguezli, Mohamed

“…Mutations in the SLC29A3 gene, which encodes the nucleoside transporter hENT3, have been implicated in syndromic forms of histiocytosis including H syndrome,…”
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