title: Phenotypic spectrum of autosomal recessive congenital ichthyosis due to PNPLA1 mutation.
authors.affiliation: Department of Genetics, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
authors.forename: L M
authors.initials: LM
authors.lastname: Boyden
authors.affiliation: Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.|Department of Pediatrics, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
authors.forename: B G
authors.initials: BG
authors.lastname: Craiglow
authors.affiliation: Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
authors.forename: R H
authors.initials: RH
authors.lastname: Hu
authors.affiliation: Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
authors.forename: J
authors.initials: J
authors.lastname: Zhou
authors.affiliation: Department of Dermatology, Baylor College of Medicine, San Antonio, TX, U.S.A.
authors.forename: J
authors.initials: J
authors.lastname: Browning
authors.affiliation: Department of Dermatology, University of California San Diego, San Diego, CA, U.S.A.
authors.forename: L
authors.initials: L
authors.lastname: Eichenfield
authors.affiliation: Department of Dermatology, National Skin Centre, Singapore, Singapore.
authors.forename: Y L
authors.initials: YL
authors.lastname: Lim
authors.affiliation: Division of Dermatology, Children's Hospital of Los Angeles, Los Angeles, CA, U.S.A.
authors.forename: M
authors.initials: M
authors.lastname: Luu
authors.affiliation: Division of Medical Genetics, Children's Hospital of Los Angeles, Los Angeles, CA, U.S.A.
authors.forename: L M
authors.initials: LM
authors.lastname: Randolph
authors.affiliation: Department of Dermatology, Complejo Hospitalario Universitario, Santiago de Compostela, Spain.
authors.forename: M
authors.initials: M
authors.lastname: Ginarte
authors.affiliation: Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Fachal
authors.affiliation: Servicio de Dermatología, Complejo Hospitalario Universitario de Vigo, Vigo, Spain.
authors.forename: L
authors.initials: L
authors.lastname: Rodriguez-Pazos
authors.affiliation: Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Vega
authors.affiliation: Department of Dermatology, Hospital Luis Calvo Mackenna, Santiago, Chile.
authors.forename: D
authors.initials: D
authors.lastname: Kramer
authors.affiliation: Department of Dermatology and Cutaneous Surgery, Miller School of Medicine, Miami, FL, U.S.A.
authors.forename: G
authors.initials: G
authors.lastname: Yosipovitch
authors.affiliation: Department of Dermatology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, U.S.A.
authors.forename: H
authors.initials: H
authors.lastname: Vahidnezhad
authors.affiliation: Department of Dermatology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, U.S.A.
authors.forename: L
authors.initials: L
authors.lastname: Youssefian
authors.affiliation: Department of Dermatology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, U.S.A.
authors.forename: J
authors.identifier: 0000-0003-4639-807X
authors.initials: J
authors.lastname: Uitto
authors.affiliation: Department of Genetics, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
authors.forename: R P
authors.initials: RP
authors.lastname: Lifton
authors.affiliation: Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, U.S.A.
authors.forename: A S
authors.initials: AS
authors.lastname: Paller
authors.affiliation: Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
authors.forename: L M
authors.initials: LM
authors.lastname: Milstone
authors.affiliation: Department of Genetics, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.|Department of Dermatology, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.|Department of Pathology, Yale University School of Medicine, PO Box 208059, New Haven, CT, 06520, U.S.A.
authors.forename: K A
authors.identifier: 0000-0003-1010-6354
authors.initials: KA
authors.lastname: Choate
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D007223:Infant; D008049:Lipase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D055815:Young Adult; D000217:Acyltransferases; D010740:Phospholipases
chemical_list: D008049:Lipase; C549684:PNPLA1 protein, human; D000217:Acyltransferases; D010740:Phospholipases