Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B-Reference-Cited by-同舟云学术

Palmoplantar keratoderma caused by a missense variant in CTSB encoding cathepsin B

Published:2020-09-12 Issue:1 Volume:46 Page:103-108
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin. Exp. Dermatol.

Author:

Mohamad J.¹²,Samuelov L.¹²^ORCID,Malki L.¹²,Peled A.¹²,Pavlovsky M.¹,Malovitski K.¹²,Taiber S.¹²,Adir N.³,Rabinowitz T.⁴,Shomron N.⁴,Milner J. D.⁵,Lestringant G.⁶,Sarig O.¹^ORCID,Sprecher E.¹²^ORCID

Affiliation:

1. Division of Dermatology Tel Aviv Sourasky Medical Center Tel Aviv Israel

2. Department of Human Molecular Genetics and Biochemistry Sackler Faculty of Medicine Tel Aviv University Tel Aviv Israel

3. Schulich Faculty of Chemistry Technion Haifa Israel

4. Department of Cell and Developmental Biology Tel Aviv University Tel Aviv Israel

5. Department of Pediatrics Columbia UniversityIrving Medical Center New York NY USA

6. Consultant Dermatologist (retired) British Ministry of Defence London UK

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ced.14384

Reference23 articles.

1. Localization of the Gene Causing Keratolytic Winter Erythema to Chromosome 8p22-p23, and Evidence for a Founder Effect in South African Afrikaans-Speakers

2. Erythrokeratolysis hiemalis (keratolytic winter erythema): a case report from Denmark

3. Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

4. Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759

5. Exclusion of CTSB and FDFT1 as positional and functional candidate genes for keratolytic winter erythema (KWE)

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