Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis-Reference-Cited by-同舟云学术

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Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis

Published:2022-01-13 Issue: Volume: Page:
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:Acad Dermatol Venereol

Author:

Hake L.¹^ORCID,Süßmuth K.²^ORCID,Komlosi K.³,Kopp J.³,Drerup C.²^ORCID,Metze D.²,Traupe H.²,Hausser I.⁴,Eckl K.M.⁵⁶⁷,Hennies H.C.⁵⁸,Fischer J.³,Oji V.²

Affiliation:

1. Department of Dermatology Elbe Klinikum Buxtehude Buxtehude Germany

2. Department of Dermatology University Hospital Münster Münster Germany

3. Institute of Human Genetics Faculty of Medicine Medical Center – University of Freiburg University of Freiburg Freiburg Germany

4. Institute of Pathology Heidelberg University Hospital Heidelberg Germany

5. Department of Biological and Geographical Sciences University of Huddersfield Huddersfield UK

6. Division of Human Genetics Medical University of Innsbruck Innsbruck Austria

7. Department of Biology Edge Hill University Ormskirk UK

8. Cologne Center for Genomics University Hospital Cologne Cologne Germany

Funder

Bundesministerium für Bildung, Wissenschaft, Forschung und Technologie

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.17873

Reference37 articles.

1. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis Consensus Conference in Sorze 2009;Oji V;J Am Acad Dermatol,2010

2. Die nichtsyndromalen Ichthyosen ‐ aktueller Stand;Traupe H;J Dtsch Dermatol Ges,2014

3. Pleomorphic ichthyosis: proposed name for a heterogeneous group of congenital ichthyoses with phenotypic shifting and mild residual scaling;Vahlquist A;Acta Derm Venereol,2010

4. Genotypic and clinical spectrum of self‐improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients;Vahlquist A;J Invest Dermatol,2010

5. Self‐healing collodion baby: a dynamic phenotype explained by a particular transglutaminase‐1 mutation;Raghunath M;J Invest Dermatol,2003

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2. Personal, financial and time burden in inherited ichthyoses: A survey of 144 patients in a university‐based setting;Journal of the European Academy of Dermatology and Venereology;2024-03-25

3. Genetic inheritance in tandem: Non-syndromic autosomal recessive congenital ichthyosis with beta-thalassaemia: A rare coincidence;Karnataka Medical Journal;2024-03-22

4. Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients;Dermatology;2024

5. Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies;Journal of Lipid Research;2022-12

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