A New Case of Keratin 14 Functional Knockout Causes Severe Recessive EBS and Questions the Haploinsufficiency Model of Naegeli- Franceschetti- Jadassohn Syndrome

A New Case of Keratin 14 Functional Knockout Causes Severe Recessive EBS and Questions the Haploinsufficiency Model of Naegeli- Franceschetti- Jadassohn Syndrome

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Investigative Dermatology - Volume 131, Issue 10, October 2011, Pages 2131-2133

Matthias Titeux, Audrey Décha, Nathalie Pironon, Laure Tonasso, Géraldine Gasc, José Enrique Mejía, Catherine Prost-Squarcioni, Alain Hovnanian,