Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing-Reference-Cited by-同舟云学术

Palmoplantar keratoderma and Charcot-Marie-Tooth disease: combination of two independent genetic diseases? Identification of two point mutations in the MPZ and KRT1 genes by whole-exome sequencing

Published:2017-06-14 Issue:1 Volume:177 Page:284-286
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:Br J Dermatol

Author:

Gagliardi S.¹,Ricca I.¹,Ferrarini A.²,Valente M.¹,Grieco G.S.¹,Piccolo G.³,Alfonsi E.⁴,Delledonne M.²⁵,Cereda C.¹

Affiliation:

1. Genomic and Post-Genomic Center; National Neurological Institute C. Mondino; Pavia Italy

2. Department of Biotechnologies; University of Verona; Verona Italy

3. Consultant Neurologist; National Neurological Institute C. Mondino; Pavia Italy

4. Neurophysiology Unit; IRCCS National Neurological Institute “C. Mondino”; Pavia Italy

5. Personal Genomics Srl; Verona Italy

Funder

Ministero della Salute

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.15066/fullpdf

Reference10 articles.

1. Palmoplantar keratoderma and Charcot-Marie-Tooth disease;Rabbiosi;Arch Dermatol,1980

2. Hereditary motor and sensory neuropathies or Charcot-Marie-Tooth diseases: an update;Tazir;J Neurol Sci,2014

3. Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease;Schiller;J Dtsch Dermatol Ges,2014

4. Keratoderma and spastic paraplegia;Powell;Clin Genet,1983

5. Palmoplantar keratoderma, nail dystrophy, and hereditary motor and sensory neuropathy: an autosomal dominant trait;Tolmie;J Med Genet,1988

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