Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature

Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Dermatological Science - Volume 81, Issue 1, January 2016, Pages 63-66

Iria Neri, Annalucia Virdi, Giada Tortora, Sara Baldassari, Marco Seri, Annalisa Patrizi,