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

Authors :: Ahmad, F.
Ansar, M.
Mehmood, S.
Izoduwa, A.
Lee, K.
Nasir, A.
Abrar, M.
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.
Source :: Journal of the European Academy of Dermatology & Venereology; Dec2016, Vol. 30 Issue 12, pe210-e213, 4p
Publication Year :: 2016
Abstract: A letter to the editor is presented which discusses a study regarding the missense variant of PNPLA1 gene that can cause autosomal recessive congenital ichthyosis (ARCI).

Subjects :: AUTOSOMAL recessive polycystic kidney
ICHTHYOSIS
MISSENSE mutation
GENETICS

Full Text Access

Tools