Trichothiodystrophy with Photosensitivity-Reference-Cited by-同舟云学术

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Trichothiodystrophy with Photosensitivity

Published:2005 Issue: Volume: Page:268-271
ISSN:
Container-title:Magnetic Resonance of Myelination and Myelin Disorders
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Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/3-540-27660-2_33

Reference37 articles.

1. Battistella PA, Peserico A. Central nervous system dysmyelinatoion in PIBI(D)S syndrome: a further case. Childs Nerv Syst 1996; 12: 110–113

2. Bergmann E, Egly J-M. Trichothiodystrophy, a transcription syndrome. Trends Genet 2001; 17: 279–286

3. Botta E, Nardo T, Broughton BC, Marinoni S, Lehmann AR, Stefanini M. Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. Am J Hum Genet 1998; 63: 1036–1048

4. Botta E, Nardo T, Lehmann AR, Egly JM, Pedrini AM, Stefanini M. Reduced level of the repair/transcription factor TFIIH trichothiodystrophy. Hum Mol Genet 2002; 11: 2919–2928

5. Bracun R, Hemmer W, Wolf-Abolvahab S, Focke M, Botzi C, Killian W, Götz M, Jarisch R. Diagnosis of trichothiodystrophy in 2 siblings. Dermatology 1997; 194: 74–76

Cited by 2 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. Photoprotection and abnormal cutaneous photosensitivity;Expert Review of Dermatology;2011-10

2. Trichothiodystrophy;Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes;2008

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