1. A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families. (21st December 2015) Authors: Ahmad, F.; Ansar, M.; Mehmood, S.; Izoduwa, A.; Lee, K.; Nasir, A.; Abrar, M.; Mehmood, S.; Ullah, A.; Aziz, A.; Smith, J.D.; Shendure, J.; Bamshad, M.J.; Nicekrson, D.A.; Santos‐Cortez, R.L.P.; Leal, S.M.; Ahmad, W. Journal: Journal of the European Academy of Dermatology and Venereology Issue: Volume 30:Number 12(2016:Dec.) Page Start: e210 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗