Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient

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Main Authors: Ryo Fukaura, Kana Tanahashi, Michiya Omi, Takuya Takeichi, Masashi Akiyama
Format: Article
Language:English
Published: Medical Journals Sweden 2025-02-01
Series:Acta Dermato-Venereologica
Subjects:
Online Access:https://medicaljournalssweden.se/actadv/article/view/41072
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author Ryo Fukaura
Kana Tanahashi
Michiya Omi
Takuya Takeichi
Masashi Akiyama
author_facet Ryo Fukaura
Kana Tanahashi
Michiya Omi
Takuya Takeichi
Masashi Akiyama
author_sort Ryo Fukaura
collection DOAJ
format Article
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institution Kabale University
issn 0001-5555
1651-2057
language English
publishDate 2025-02-01
publisher Medical Journals Sweden
record_format Article
series Acta Dermato-Venereologica
spelling doaj-art-3bda5255e50542eebe1dfd095f25a40e2025-02-05T12:55:36ZengMedical Journals SwedenActa Dermato-Venereologica0001-55551651-20572025-02-0110510.2340/actadv.v105.41072Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis PatientRyo Fukaura0Kana Tanahashi1Michiya Omi2Takuya Takeichi3Masashi Akiyama4Nagoya University Graduate School of Medicine, Department of Dermatology, Aichi-ken, JapanNagoya University Graduate School of Medicine, Department of Dermatology, Aichi-ken, JapanNagoya University Graduate School of Medicine, Department of Dermatology, Aichi-ken, JapanNagoya University Graduate School of Medicine, Department of Dermatology, Aichi-ken, JapanNagoya University Graduate School of Medicine, Department of Dermatology, Aichi-ken, Japanhttps://medicaljournalssweden.se/actadv/article/view/41072congenitalautosomal recessive congenital ichthyosisgeneticbarrieracylceramide
spellingShingle Ryo Fukaura
Kana Tanahashi
Michiya Omi
Takuya Takeichi
Masashi Akiyama
Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient
Acta Dermato-Venereologica
congenital
autosomal recessive congenital ichthyosis
genetic
barrier
acylceramide
title Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient
title_full Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient
title_fullStr Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient
title_full_unstemmed Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient
title_short Nonsense Variant in CYP4F22 Causes Malformation of Corneocyte Lipid Envelopes in a Lamellar Ichthyosis Patient
title_sort nonsense variant in cyp4f22 causes malformation of corneocyte lipid envelopes in a lamellar ichthyosis patient
topic congenital
autosomal recessive congenital ichthyosis
genetic
barrier
acylceramide
url https://medicaljournalssweden.se/actadv/article/view/41072
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AT takuyatakeichi nonsensevariantincyp4f22causesmalformationofcorneocytelipidenvelopesinalamellarichthyosispatient
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