@article {399,
	title = {Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.},
	journal = {Br J Dermatol},
	volume = {177},
	year = {2017},
	month = {2017 07},
	pages = {319-322},
	keywords = {Adolescent, Adult, Aged, Aged, 80 and over, Child, Child, Preschool, Female, Heterozygote, Homozygote, Humans, Ichthyosis, Infant, Lipase, Male, Middle Aged, Mutation, Missense, Pedigree, Phenotype, Young Adult},
	issn = {1365-2133},
	doi = {10.1111/bjd.15570},
	author = {Boyden, L M and Craiglow, B G and Hu, R H and Zhou, J and Browning, J and Eichenfield, L and Lim, Y L and Luu, M and Randolph, L M and Ginarte, M and Fachal, L and Rodriguez-Pazos, L and Vega, A and Kramer, D and Yosipovitch, G and Vahidnezhad, H and Youssefian, L and Uitto, J and Lifton, R P and Paller, A S and Milstone, L M and Choate, K A}
}
@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}
}
