@article {101,
	title = {A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families.},
	journal = {J Eur Acad Dermatol Venereol},
	volume = {30},
	year = {2016},
	month = {2016 Dec},
	pages = {e210-e213},
	keywords = {Amino Acid Sequence, Consanguinity, Female, Genes, Recessive, Humans, Ichthyosiform Erythroderma, Congenital, Lipase, Male, Mutation, Missense, Pakistan, Pedigree, Sequence Homology, Amino Acid},
	issn = {1468-3083},
	doi = {10.1111/jdv.13540},
	author = {Ahmad, F and Ansar, M and Mehmood, S and Izoduwa, A and Lee, K and Nasir, A and Abrar, M and Mehmood, S and Ullah, A and Aziz, A and Smith, J D and Shendure, J and Bamshad, M J and Nicekrson, D A and Santos-Cortez, R L P and Leal, S M and Ahmad, W}
}
