Clinical and genetic characteristics of xeroderma pigmentosum in Nepal-Reference-Cited by-同舟云学术

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Clinical and genetic characteristics of xeroderma pigmentosum in Nepal

Published:2017-12-18 Issue:5 Volume:32 Page:832-839
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Espi P.¹,Parajuli S.²,Benfodda M.³⁴,Lebre A.-S.⁵,Paudel U.²,Grange A.¹,Grybek V.⁵,Grange T.⁶,Soufir N.³⁴,Grange F.¹

Affiliation:

1. Department of Dermatology; Robert Debré Hospital; Reims France

2. Department of Dermatology; Maharajgunj Medical Canpus; Tribhuvan University; Katmandu Nepal

3. Department of Genetics; Bichat Hospital; Paris France

4. INSERM U976; Saint-Louis Hospital; Paris France

5. Department of Genetics; Maison Blanche Hospital; Reims France

6. INSERM U1148; Bichat Hospital; Paris France

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.14717/fullpdf

Reference20 articles.

1. Xeroderma pigmentosum;Lehmann;Orphanet J Rare Dis,2011

2. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair;Bradford;J Med Genet,2011

3. Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair;Robbins;Ann Intern Med,1974

4. Heterozygous individuals bearing a founder mutation in the XPA DNA repair gene comprise nearly 1% of the Japanese population;Hirai;Mutat Res,2006

5. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum. Cockayne syndrome and trichothiodystrophy;Kleijer;DNA Repair,2008

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Access to information, sun protection and dermatological care in patients with xeroderma pigmentosum in Nepal;JEADV Clinical Practice;2024-08

2. DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity;DNA Repair;2024-04

3. Familial Melanoma Phenotype With Xeroderma Pigmentosum Group C (XP-C) Genotype - The Putative Role of MC1R Polymorphism as Modifier;Dermatology Practical & Conceptual;2024-01-31

4. Sarcomatoid Carcinoma of Orbit in a Patient With Xeroderma Pigmentosum;Journal of Medical Cases;2023-06

5. Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families;Klinische Pädiatrie;2021-09-20

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