Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum

The XPD(ERCC2) gene encodes a DNA helicase involved in DNA repair and transcription. Patients with mutations in XPD may have different autosomal recessive phenotypes including trichothiodystrophy (TTD) or xeroderma pigmentosum (XP). TTD patients have sulfur-deficient, brittle hair, short stature and...

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Dettagli Bibliografici
Autori principali: Tamura, Deborah, Khan, Sikandar G, Merideth, Melissa, DiGiovanna, John J, Tucker, Margaret A, Goldstein, Alisa M, Oh, Kyu-Seon, Ueda, Takahiro, Boyle, Jennifer, Sarihan, Mansi, Kraemer, Kenneth H
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2012
Soggetti:
Short Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3499748/
https://ncbi.nlm.nih.gov/pubmed/22617342
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.90
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