Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene-Reference-Cited by-同舟云学术

Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene

Published:2022-11-07 Issue:4 Volume:37 Page:
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:Acad Dermatol Venereol

Author:

Clabbers Julia M. K.¹²³,Bolling Marieke C.⁴,Burms Charlotte¹²,Vreeburg Maaike⁵,Lemmink Henny H.⁶,van den Akker Peter C.⁶,Steijlen Peter M.¹²,van Geel Michel¹²⁵,Gostyński Antoni H.¹²^ORCID

Affiliation:

1. Department of Dermatology, Centre of Expertise for Genodermatoses Maastricht University Medical Centre+ Maastricht The Netherlands

2. GROW School for Oncology and Developmental Biology Maastricht University Maastricht The Netherlands

3. Department of Dermatology Haga Hospital The Hague The Netherlands

4. Department of Dermatology, Centre of Expertise for Genodermatoses University of Groningen, University Medical Centre Groningen Groningen The Netherlands

5. Department of Clinical Genetics, Centre of Expertise for Genodermatoses Maastricht University Medical Centre+ Maastricht The Netherlands

6. Department of Genetics, Centre of Expertise for Genodermatoses University of Groningen, University Medical Centre Groningen Groningen The Netherlands

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.18699

Reference9 articles.

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2. Loss-of-Function Variants in SERPINA12 Underlie Autosomal Recessive Palmoplantar Keratoderma

3. Gene list panel genome diagnostics UMCG. Available from:https://webshare.zenya.work/8yodxx6gk6p15j6d/Document.aspx?websharedocumentid=5e757178‐20e6‐40d3‐bd75‐ec6baf130478Accessed 16 October 2022.

4. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

5. Clinical Features of Autosomal Dominant and Sex-linked Ichthyosis in an English Population