Trichothiodystrophy
Author:
Publisher
Springer Singapore
Link
http://link.springer.com/content/pdf/10.1007/978-981-10-6722-8_10
Reference94 articles.
1. Price VH, Odom RB, Ward WH, Jones FT. Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex. Arch Dermatol. 1980;116:1375–84.
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3. Faghri S, Tamura D, Kraemer KH, Digiovanna JJ. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations. J Med Genet. 2008;45:609–21. https://doi.org/10.1136/jmg.2008.058743 .
4. Stefanini M, Ruggieri M. Trichothiodystrophy. New York: Springer; 2008. p. 821–45.
5. Tamura D, Merideth M, DiGiovanna JJ, et al. High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies. Prenat Diagn. 2011;31:1046–53. https://doi.org/10.1002/pd.2829 .
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. TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy;Human Mutation;2022-11-02
2. Reduced levels of prostaglandin I2 synthase: a distinctive feature of the cancer-free trichothiodystrophy;Proceedings of the National Academy of Sciences;2021-06-21
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