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Germline intergenic duplications at Xq26.1 underlie Bazex–Dupré–Christol basal cell carcinoma susceptibility syndrome *

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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… Click to show full abstract

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‐q27.1. However, the genetic mechanism of BDCS remains an open question.

Keywords: basal cell; dupr christol; bazex dupr

Journal Title: British Journal of Dermatology
Year Published: 2022

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