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Mutations in KCTD1 cause scalp-ear-nipple syndrome.
Marneros AG, Beck AE, Turner EH, McMillin MJ, Edwards MJ, Field M, de Macena Sobreira NL, Perez AB, Fortes JA, Lampe AK, Giovannucci Uzielli ML, Gordon CT, Plessis G, Le Merrer M, Amiel J, Reichenberger E, Shively KM, Cerrato F, Labow BI, Tabor HK, Smith JD, Shendure J, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics. Marneros AG, et al. Am J Hum Genet. 2013 Apr 4;92(4):621-6. doi: 10.1016/j.ajhg.2013.03.002. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541344 Free PMC article.
Presentation and treatment of macrodactyly in children.
Cerrato F, Eberlin KR, Waters P, Upton J, Taghinia A, Labow BI. Cerrato F, et al. J Hand Surg Am. 2013 Nov;38(11):2112-23. doi: 10.1016/j.jhsa.2013.08.095. Epub 2013 Sep 20. J Hand Surg Am. 2013. PMID: 24060511
46 results