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A new case of keratin 14 functional knockout causes severe recessive EBS and questions the haploinsufficiency model of Naegeli-Franceschetti-Jadassohn syndrome.
Titeux M, Décha A, Pironon N, Tonasso L, Gasc G, Mejía JE, Prost-Squarcioni C, Hovnanian A. Titeux M, et al. Among authors: decha a. J Invest Dermatol. 2011 Oct;131(10):2131-3. doi: 10.1038/jid.2011.166. Epub 2011 Jul 7. J Invest Dermatol. 2011. PMID: 21734713 Free article. No abstract available.
Keratitis-ichthyosis-deafness syndrome caused by GJB2 maternal mosaicism.
Titeux M, Mendonça V, Décha A, Moreira E, Magina S, Maia A, Lacaze-Buzy L, Mejía JE, Torrão L, Carvalho F, Eça-Guimarães J, Hovnanian A. Titeux M, et al. Among authors: decha a. J Invest Dermatol. 2009 Mar;129(3):776-9. doi: 10.1038/jid.2008.312. Epub 2008 Oct 9. J Invest Dermatol. 2009. PMID: 18843290 Free article. No abstract available.