A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference22 articles.
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2. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A;Corbett;J. Med. Genet.,2015
3. Premature aging in mice deficient in DNA repair and transcription;de Boer;Science,2002
4. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy;De Boer;Mol. Cell,1998
5. Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations;Faghri;J. Med. Genet.,2008
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