Isolated recessive nail dysplasia caused byFZD6mutations: report of three families and review of the literature-Reference-Cited by-同舟云学术

Isolated recessive nail dysplasia caused byFZD6mutations: report of three families and review of the literature

Published:2016-10-27 Issue:8 Volume:41 Page:884-889
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Kasparis C.¹,Reid D.¹,Wilson N. J.²,Okur V.³⁴,Cole C.²⁵,Hansen C. D.⁶,Bosse K.⁷⁸,Betz R. C.⁷,Khan M.¹,Smith F. J. D.²⁹

Affiliation:

1. Dermatology Department; Walsall Healthcare NHS Trust; Walsall UK

2. Centre for Dermatology and Genetic Medicine; Division of Biological Chemistry and Drug Discovery; School of Life Sciences; University of Dundee; Dundee UK

3. Department of Medical Genetics; Haydarpasa Numune Hospital; Istanbul Turkey

4. Department of Pediatrics; Columbia University Medical Center; New York NY USA

5. Division of Computational Biology; School of Life Sciences; University of Dundee; Dundee UK

6. Department of Dermatology; University of Utah; Salt Lake City UT USA

7. Institute of Human Genetics; University of Bonn; Bonn Germany

8. Institute of Medical Genetics and Applied Genomics and Department of Obstetrics and Gynecology; University Hospital of Tübingen; Tübingen Germany

9. Pachyonychia Congenita Project; Salt Lake City UT USA

Funder

Pachyonychia Congenita Project

Wellcome Trust

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12934/fullpdf

Reference10 articles.

1. Assignment of the gene for a new hereditary nail disorder, isolated congenital nail dysplasia, to chromosome 17p13;Krebsova;J Invest Dermatol,2000

2. Role of homeobox genes in the patterning, specification, and differentiation of ectodermal appendages in mammals;Duverger;J Cell Physiol,2008

3. FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia;Naz;Br J Dermatol,2012

4. A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia;Raza;Br J Dermatol,2013

5. Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia;Frojmark;Am J Hum Genet,2011

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