Article
Mutations in KCTD1 cause scalp-ear-nipple syndrome.
American journal of human genetics - 4 Apr 2013
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
Abstract excerpt
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 to identify potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations that cause SEN syndrome....
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