Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity-Reference-Cited by-同舟云学术

Characterization of a Pseudoxanthoma elasticum-like patient with coagulation deficiency, cutaneous calcinosis and GGCX compound heterozygosity

Published:2018-02 Issue:2 Volume:89 Page:201-204
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Dordoni Chiara,Gatti Marta,Venturini Marina,Zanca Arianna,Cinquina Valeria,Santoro Graziano,Battocchio Simonetta,Calzavara-Pinton Piergiacomo,Ritelli Marco,Colombi Marina

Funder

Fazzo Cusan family

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference10 articles.

1. Histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues;Hosen;Scientifica (Cairo),2012

2. Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity;Vanakker;J. Invest. Dermatol.,2007

3. Co-existent pseudoxanthoma elasticum and vitamin k-dependent coagulation factor deficiency;Li;Am. J. Pathol.,2009

4. Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes;Li;J. Invest. Dermatol.,2009

5. Bleeding and non-bleeding phenotypes in patients with GGCX gene mutations;Watzke;Thromb. Res.,2014

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5. Pseudoxanthoma elasticum‐like syndrome with coagulation deficiency associated with carotid artery hypoplasia and a novel gamma‐glutamyl carboxylase gene mutation;International Journal of Dermatology;2020-08-17