The molecular genetic analysis of the expanding pachyonychia congenita case collection-Reference-Cited by-同舟云学术

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The molecular genetic analysis of the expanding pachyonychia congenita case collection

Published:2014-08 Issue:2 Volume:171 Page:343-355
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Wilson N.J.¹,O'Toole E.A.²,Milstone L.M.³,Hansen C.D.⁴,Shepherd A.A.¹,Al‐Asadi E.¹,Schwartz M.E.⁵,McLean W.H.I.¹,Sprecher E.⁶,Smith F.J.D.¹

Affiliation:

1. Centre for Dermatology and Genetic Medicine Colleges of Life Sciences and Medicine, Dentistry & Nursing University of Dundee Dundee DD1 5EH U.K

2. Blizard Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London U.K

3. Department of Dermatology Yale University New Haven CT U.S.A

4. Department of Dermatology University of Utah Salt Lake City UT U.S.A

5. PC Project Salt Lake City UT U.S.A

6. Tel Aviv Sourasky Medical Center Tel Aviv Israel

Funder

Wellcome Trust

Pachyonychia Congenita Project

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.12958

Reference25 articles.

1. A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.

2. A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

3. Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

4. Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

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4. Phenotype and genotype features of Vietnamese children with pachyonychia congenita;Pediatrics & Neonatology;2023-07

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