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

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

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 gen...

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Main Authors: Liu, Yanshan, Banka, Siddharth, Huang, Yingzhi, Hardman-Smart, Jonathan, Pye, Derek, Torrelo, Antonio, Beaman, Glenda M., Kazanietz, Marcelo G., Baker, Martin J., Ferrazzano, Carlo, Shi, Chenfu, Orozco, Gisela, Eyre, Stephen, van Geel, Michel, Bygum, Anette, Fischer, Judith, Miedzybrodzka, Zosia, Abuzahra, Faris, Rübben, Albert, Cuvertino, Sara, Ellingford, Jamie M., Smith, Miriam J., Evans, D. Gareth, Weppner-Parren, Lizelotte J. M. T., van Steensel, Maurice A. M., Chaudhary, Iskander H., Mangham, D. Chas, Lear, John T., Paus, Ralf, Frank, Jorge, Newman, William G., Zhang, Xue
מחברים אחרים: Lee Kong Chian School of Medicine (LKCMedicine)
פורמט: Journal Article
שפה:English
יצא לאור: 2022
נושאים:
Science::Medicine
Follicular Atrophoderma
Hair Follicle
גישה מקוונת:https://hdl.handle.net/10356/163556

אינטרנט

https://hdl.handle.net/10356/163556

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