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Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H. Hadj-Rabia S, et al. Genet Med. 2018 Feb;20(2):190-201. doi: 10.1038/gim.2017.71. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771254 Free article.
Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation.
Leclerc-Mercier S, Dufernez F, Fraitag S, Coulombe J, Dompmartin A, Barreau M, Bozon D, Lamazière A, Bonnefont JP, Khalifa E, Bodemer C, Hadj-Rabia S. Leclerc-Mercier S, et al. Br J Dermatol. 2015 Nov;173(5):1316-8. doi: 10.1111/bjd.13948. Epub 2015 Oct 5. Br J Dermatol. 2015. PMID: 26075358 No abstract available.
[The collodion baby].
Mazereeuw-Hautier J, Dreyfus I, Corset I, Leclerc-Mercier S, Jonca N, Bodemer C. Mazereeuw-Hautier J, et al. Ann Dermatol Venereol. 2016 Mar;143(3):225-9. doi: 10.1016/j.annder.2015.11.007. Epub 2016 Jan 4. Ann Dermatol Venereol. 2016. PMID: 26765814 French. No abstract available.
Ichthyosis as the dermatological phenotype associated with TTC7A mutations.
Leclerc-Mercier S, Lemoine R, Bigorgne AE, Sepulveda F, Leveau C, Fischer A, Mahlaoui N, Hadj-Rabia S, de Saint Basile G. Leclerc-Mercier S, et al. Br J Dermatol. 2016 Nov;175(5):1061-1064. doi: 10.1111/bjd.14644. Epub 2016 Aug 31. Br J Dermatol. 2016. PMID: 27059536 No abstract available.
75 results