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

Por 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.
Publicado no J Eur Acad Dermatol Venereol (2015)