Article
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol syndrome, an inherited basal cell carcinoma susceptibility condition
2022-02-17
Abstract excerpt
<h4>Background</h4> Bazex-Dupré-Christol syndrome (BDCS; MIM301845) is a rare X-linked dominant genodermatosis characterized by follicular atrophoderma, congenital hypotrichosis and multiple basal cell carcinomas (BCCs). Previous studies have linked BDCS to an 11.4 Mb interval on chromosome Xq25-27.1. However, the genetic mechanism of BDCS remains an open question. <h4>Methods</h4> To investigate the genetic etiol...
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Identifiers and source
- Literature Corpus work
- 1263823f-dfa8-592c-96f3-83850e7bb96a
- DOI
- 10.1101/2022.02.12.22270762
