关于“弹性假黄瘤临床实践指南（2017年）”的评论：突变分析的重要性 - Suppr

Comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis.

作者信息

Li Qiaoli, Terry Sharon F, Uitto Jouni

机构信息

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

出版信息

J Dermatol. 2022 Jul;49(7):e248-e249. doi: 10.1111/1346-8138.16354. Epub 2022 Mar 22.

DOI:10.1111/1346-8138.16354

PMID:35318717

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9253068/

Abstract

摘要

相似文献

Comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis.

J Dermatol. 2022 Jul;49(7):e248-e249. doi: 10.1111/1346-8138.16354. Epub 2022 Mar 22.

Author reply to comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis.

J Dermatol. 2022 Jul;49(7):e250. doi: 10.1111/1346-8138.16379. Epub 2022 Apr 8.

Clinical practice guidelines for pseudoxanthoma elasticum (2017): Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee.

J Dermatol. 2022 Mar;49(3):e91-e98. doi: 10.1111/1346-8138.16301. Epub 2022 Jan 12.

[Diagnostic criteria of Pseudoxanthoma elasticum in 2012].

Nippon Ganka Gakkai Zasshi. 2012 Dec;116(12):1156-7.

Pseudoxanthoma elasticum.

Acta Clin Belg. 2000 May-Jun;55(3):170-3. doi: 10.1080/17843286.2000.11754289.

Pseudoxanthoma elasticum.

Angiology. 1971 Dec;22(11):629-46. doi: 10.1177/000331977102201105.

Juvenile pseudoxanthoma elasticum: recognition and management.

Pediatr Dermatol. 1993 Mar;10(1):19-25. doi: 10.1111/j.1525-1470.1993.tb00005.x.

[Pseudoxanthoma elasticum].

Pol Arch Med Wewn. 2001 Jul;106(1):611-5.

Pseudoxanthoma elasticum: report of a case without any mutations in 5 exons of the MRP6 gene.

J Dermatol. 2002 Jan;29(1):46-7. doi: 10.1111/j.1346-8138.2002.tb00165.x.

[Pseudoxanthoma elasticum in childhood].

Ann Dermatol Venereol. 2009 Jun-Jul;136(6-7):552-5; quiz 551, 556. doi: 10.1016/j.annder.2008.09.028. Epub 2009 Apr 10.

本文引用的文献

Clinical practice guidelines for pseudoxanthoma elasticum (2017): Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee.

J Dermatol. 2022 Mar;49(3):e91-e98. doi: 10.1111/1346-8138.16301. Epub 2022 Jan 12.

Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.

Genet Med. 2022 Jan;24(1):75-86. doi: 10.1016/j.gim.2021.08.011. Epub 2021 Nov 30.

Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020.

J Clin Med. 2020 Dec 31;10(1):114. doi: 10.3390/jcm10010114.

Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.

J Invest Dermatol. 2021 May;141(5):1148-1156. doi: 10.1016/j.jid.2020.10.013. Epub 2020 Dec 17.

Pseudoxanthoma elasticum.

Clin Dermatol. 1988 Jan-Mar;6(1):1-159. doi: 10.1016/0738-081x(88)90003-x.

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Comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis.

J Dermatol. 2022 Jul;49(7):e248-e249. doi: 10.1111/1346-8138.16354. Epub 2022 Mar 22.

Author reply to comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis.

J Dermatol. 2022 Jul;49(7):e250. doi: 10.1111/1346-8138.16379. Epub 2022 Apr 8.

Clinical practice guidelines for pseudoxanthoma elasticum (2017): Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee.

J Dermatol. 2022 Mar;49(3):e91-e98. doi: 10.1111/1346-8138.16301. Epub 2022 Jan 12.

[Diagnostic criteria of Pseudoxanthoma elasticum in 2012].

Nippon Ganka Gakkai Zasshi. 2012 Dec;116(12):1156-7.

Pseudoxanthoma elasticum.

Acta Clin Belg. 2000 May-Jun;55(3):170-3. doi: 10.1080/17843286.2000.11754289.

Pseudoxanthoma elasticum.

Angiology. 1971 Dec;22(11):629-46. doi: 10.1177/000331977102201105.

Juvenile pseudoxanthoma elasticum: recognition and management.

Pediatr Dermatol. 1993 Mar;10(1):19-25. doi: 10.1111/j.1525-1470.1993.tb00005.x.

[Pseudoxanthoma elasticum].

Pol Arch Med Wewn. 2001 Jul;106(1):611-5.

Pseudoxanthoma elasticum: report of a case without any mutations in 5 exons of the MRP6 gene.

J Dermatol. 2002 Jan;29(1):46-7. doi: 10.1111/j.1346-8138.2002.tb00165.x.

[Pseudoxanthoma elasticum in childhood].

Ann Dermatol Venereol. 2009 Jun-Jul;136(6-7):552-5; quiz 551, 556. doi: 10.1016/j.annder.2008.09.028. Epub 2009 Apr 10.

本文引用的文献

Clinical practice guidelines for pseudoxanthoma elasticum (2017): Clinical Practice Guidelines for Pseudoxanthoma Elasticum Drafting Committee.

J Dermatol. 2022 Mar;49(3):e91-e98. doi: 10.1111/1346-8138.16301. Epub 2022 Jan 12.

Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.

Genet Med. 2022 Jan;24(1):75-86. doi: 10.1016/j.gim.2021.08.011. Epub 2021 Nov 30.

Therapeutics Development for Pseudoxanthoma Elasticum and Related Ectopic Mineralization Disorders: Update 2020.

J Clin Med. 2020 Dec 31;10(1):114. doi: 10.3390/jcm10010114.

Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.

J Invest Dermatol. 2021 May;141(5):1148-1156. doi: 10.1016/j.jid.2020.10.013. Epub 2020 Dec 17.

Pseudoxanthoma elasticum.

Clin Dermatol. 1988 Jan-Mar;6(1):1-159. doi: 10.1016/0738-081x(88)90003-x.

Comment on "Clinical practice guidelines for pseudoxanthoma elasticum (2017)": The importance of mutation analysis.

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