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Title: Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome
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
Keywords: Science::Medicine
Issue Date: 2022
Source: Liu, Y., Banka, S., Huang, Y., Hardman-Smart, J., Pye, D., Torrelo, A., Beaman, G. M., Kazanietz, M. G., Baker, M. J., Ferrazzano, C., Shi, C., Orozco, G., Eyre, S., van Geel, M., Bygum, A., Fischer, J., Miedzybrodzka, Z., Abuzahra, F., Rübben, A., ...Zhang, X. (2022). Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome. British Journal of Dermatology, 187(6), 948-961.
Journal: British Journal of Dermatology
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.
ISSN: 0007-0963
DOI: 10.1111/bjd.21842
Schools: Lee Kong Chian School of Medicine (LKCMedicine) 
Organisations: Skin Research Institute of Singapore, A*STAR
Rights: © 2022 British Association of Dermatologists. All rights reserved.
Fulltext Permission: none
Fulltext Availability: No Fulltext
Appears in Collections:LKCMedicine Journal Articles

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