Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype-Reference-Cited by-同舟云学术

Punctate palmoplantar keratoderma: an unusual mutation causing an unusual phenotype

Published:2018-04-16 Issue:6 Volume:178 Page:1455-1457
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Vodo D.¹²,Sarig O.¹,Jeddah D.²,Malchin N.¹,Eskin-Schwarz M.¹,Mohamad J.¹²,Rabinowitz T.³,Goldberg I.¹,Shomron N.³⁴,Khamaysi Z.⁵,Bergman R.⁵,Sprecher E.¹²^ORCID

Affiliation:

1. Department of Dermatology; Tel Aviv Sourasky Medical Center; Tel Aviv Israel

2. Department of Human Molecular Genetics and Biochemistry; Tel Aviv University; Tel Aviv Israel

3. Department of Cell and Developmental Biology; Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

4. Variantyx Ltd; Framingham MA U.S.A.

5. Department of Dermatology; Rambam Medical Center; Haifa Israel

Funder

Tel Aviv University

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.16502/fullpdf

Reference11 articles.

1. Palmoplantar keratodermas;Itin;Clin Dermatol,2005

2. Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer;Giehl;Am J Hum Genet,2012

3. Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratoderma;Guo;J Med Genet,2012

4. Hereditary palmoplantar keratoderma ‘clinical and genetic differential diagnosis’;Sakiyama;J Dermatol,2016

5. Acrokeratoelastoidosis;Bogle;J Am Acad Dermatol,2002

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