Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome

Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome t...

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Detaylı Bibliyografya
Asıl Yazarlar: Marneros, Alexander G., Beck, Anita E., Turner, Emily H., McMillin, Margaret J., Edwards, Matthew J., Field, Michael, de Macena Sobreira, Nara Lygia, Perez, Ana Beatriz A., Fortes, Jose A.R., Lampe, Anne K., Giovannucci Uzielli, Maria Luisa, Gordon, Christopher T., Plessis, Ghislaine, Le Merrer, Martine, Amiel, Jeanne, Reichenberger, Ernst, Shively, Kathryn M., Cerrato, Felecia, Labow, Brian I., Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2013
Konular:
Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3617379/
https://ncbi.nlm.nih.gov/pubmed/23541344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.03.002
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