Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4-Reference-Cited by-同舟云学术

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Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4

Published:2017-12-26 Issue:6 Volume:32 Page:e221-e223
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:

Bhoyrul B.¹,Lindsay H.²,Robinson R.²,Stahlschmidt J.³,Palmer T.³,Edward S.³,Clark S.M.¹

Affiliation:

1. Department of Dermatology; Chapel Allerton Hospital; Chapeltown Road Leeds UK

2. Leeds Genetics Laboratory; St James's University Hospital; Beckett Street Leeds UK

3. Department of Histopathology; St James's University Hospital; Beckett Street Leeds Uk

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.14742/fullpdf

Reference8 articles.

1. Rothmund-Thomson syndrome;Larizza;Orphanet J Rare Dis,2010

2. Clinical manifestations in a cohort of 41 Rothmund Thomson syndrome patients;Wang;Am J Med Genet,2001

3. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome;Wang;J Nat Cancer Inst,2003

4. Hair shaft abnormalities: part II;Rogers;Australas J Dermatol,1996

5. Alterations in the basement membrane zone in pili annulati hair follicles as demonstrated by electron microscopy and immunohistochemistry;Giehl;Br J Dermatol,2004

Cited by 5 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. A family with nine siblings showing signs of Rothmund–Thomson syndrome with two being definitely diagnosed with the syndrome due to homozygous N‐terminal mutation of RECQL4;Clinical Case Reports;2024-07-24

2. The diagnostic dilemma of rothmund-thomson syndrome Type II: A rare disorder with a novel mutation in the RECQL4 gene in an Indian Boy;Indian Journal of Paediatric Dermatology;2022

3. Scanning electron microscopy of the inner and outer aspects of tiger tail hairs;International Journal of Trichology;2022

4. Congenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms;International Journal of Molecular Sciences;2021-01-18

5. Trichoscopy in Hair Shaft Disorders;Dermatologic Clinics;2018-10

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