ERCC 2 mutations in two siblings with a severe trichothiodystrophy phenotype-Reference-Cited by-同舟云学术

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ERCC 2 mutations in two siblings with a severe trichothiodystrophy phenotype

Published:2020-04 Issue:4 Volume:34 Page:876-879
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:

Leemans G.¹^ORCID,De Raeve L.²,Keymolen K.³

Affiliation:

1. Department of Dermatology and Pathology Universitair Ziekenhuis Brussel (UZB) Vrije Universiteit Brussel (VUB) Brussels Belgium

2. Department of Dermatology Universitair Ziekenhuis Brussel (UZB) Vrije Universiteit Brussel (VUB) Brussels Belgium

3. Centre for Medical Genetics Universitair Ziekenhuis Brussel (UZB) Vrije Universiteit Brussel (VUB) Brussels Belgium

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.16134

Reference20 articles.

1. Trichothiodystrophy

2. New clinico-genetic classification of trichothiodystrophy

3. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

4. What's new in trichothiodystrophy

5. Structural and Molecular Hair Abnormalities in Trichothiodystrophy

Cited by 4 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. TFIIH central activity in nucleotide excision repair to prevent disease;DNA Repair;2023-12

2. Tufted hair at birth: A previously undescribed peculiar sign of trichothiodystrophy;Journal of the European Academy of Dermatology and Venereology;2023-11-21

3. Novel ERCC2 variant in trichothiodystrophy infant: the first case report in China;BMC Pediatrics;2021-03-12

4. Genetisch bedingte UV‑Empfindlichkeit;Monatsschrift Kinderheilkunde;2021-01-12

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