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A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
Sayeb, Marwa; Riahi, Zied; Laroussi, Nadia; Bonnet, Crystel; Romdhane, Lilia; Mkaouar, Rahma; Zaouak, Anissa; Marrakchi, Jihene; Abdessalem, Ghaith; Messaoud, Olfa; Bouchniba, Oussema; Ghilane, Nacer; Mokni, Mourad; Besbes, Ghazi; Yacoub-Youssef, Houda; Petit, Christine; Abdelhak, Sonia.
Affiliation
  • Sayeb M; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), University of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.
  • Riahi Z; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), University of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.
  • Laroussi N; INSERM, UMRS 1120, Vision Institut, Paris, France.
  • Bonnet C; University of Paris VI UPMC Sorbonnes, Paris, France.
  • Romdhane L; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), University of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.
  • Mkaouar R; INSERM, UMRS 1120, Vision Institut, Paris, France.
  • Zaouak A; University of Paris VI UPMC Sorbonnes, Paris, France.
  • Marrakchi J; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), University of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.
  • Abdessalem G; Department of Biology, Faculty of Science of Bizerte, Université Tunis Carthage, Zarzouna, Tunisia.
  • Messaoud O; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), University of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.
  • Bouchniba O; Department of Dermatology, Habib Thameur Hospital, Tunis, Tunisia.
  • Ghilane N; Department of Otorhinolaryngology, CHU La Rabta, Tunis, Tunisia.
  • Mokni M; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), University of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.
  • Besbes G; Laboratory of Biomedical Genomics and Oncogenetics (LR11IPT05), University of Tunis El Manar, Pasteur Institut of Tunis, Tunis, Tunisia.
  • Yacoub-Youssef H; Departement of Biochemistry, Habib Bourguiba Hospital, Medenine, Tunisia.
  • Petit C; Departement of Biochemistry, Habib Bourguiba Hospital, Medenine, Tunisia.
  • Abdelhak S; Department of Dermatology, CHU La Rabta Tunis, Tunis, Tunisia.
Int J Dermatol ; 58(12): 1439-1443, 2019 Dec.
Article in En | MEDLINE | ID: mdl-31020658
Subject(s)
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ichthyosis, Lamellar / Cytochrome P-450 Enzyme System / Sulfate Transporters / Hearing Loss, Sensorineural Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Female / Humans / Male Language: En Journal: Int J Dermatol Year: 2019 Document type: Article Affiliation country: Tunisia Country of publication: United kingdom
Fulltext
Add to My VHL
Print
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ichthyosis, Lamellar / Cytochrome P-450 Enzyme System / Sulfate Transporters / Hearing Loss, Sensorineural Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Female / Humans / Male Language: En Journal: Int J Dermatol Year: 2019 Document type: Article Affiliation country: Tunisia Country of publication: United kingdom