Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family-Reference-Cited by-同舟云学术

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Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family

Published:2014-08-04 Issue:1 Volume:30 Page:157-159
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Gomez-Moyano E.¹,Godoy-Diaz D.J.¹,Ponce-Verdugo L.²,Sanz-Trelles A.³,Vera-Casaño A.¹,Sierra-Salinas C.⁴

Affiliation:

1. Department of Dermatology; Hospital Regional Universitario de Málaga; Málaga Spain

2. Department of Hematology; Hospital Regional Universitario de Málaga; Málaga Spain

3. Department of Pathology; Hospital Regional Universitario de Málaga; Málaga Spain

4. Department of Gastroenterology; Hospital Regional Universitario de Málaga; Málaga Spain

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.12651/fullpdf

Reference10 articles.

1. Icthyosiform dermatosis with systemic lipoidosis;Dorfman;Arch Dermatol,1974

2. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin Dorfman syndrome;Lefevre;Am J Hum Genet,2001

3. Steatohepatitis and liver cirrhosis in Chanarin- Dorfman syndrome with a new ABDH5 mutation;Cakmak;Clin Res Hepatol Gastroenterol,2012

4. A rare cause of fatty liver and elevated aminotransferase levels: Chanarin-Dorfman syndrome: a case report;Ersoy;Int J Hepatol,2011

5. Neutral lípido storage disease with ictiosis. Defective lamellar body contents and intracellular dispersion;Elias;Arch Dermatol,1985

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1. Four cases of Chanarin‐Dorfman syndrome presenting with different types of erythrokeratoderma;Pediatric Dermatology;2024-06-17

2. Dorfman–Chanarin Syndrome with Renal Involvement: A Rare Case Report and Literature Review;Indian Journal of Nephrology;2023

3. Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma;Journal of the European Academy of Dermatology and Venereology;2022-03-15

4. Dorfman-Chanarin Syndrome: A Rare Cause of Metabolic Associated Fatty Liver Disease Related to Homozygosity of the Nonsense Mutation c.934C>T (p.R312*);GE - Portuguese Journal of Gastroenterology;2021-07-07

5. Chanarin‐Dorfman Syndrome: A comprehensive review;Liver International;2021-03-18

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