A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families

av 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.
I publikationen J Eur Acad Dermatol Venereol (2015)