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4. Hypothelia, syndactyly, and ear malformation--a variant of the scalp-ear-nipple syndrome?: Case report and review of the literature. Baris H, Tan WH, Kimonis VE. Am J Med Genet A; 2005 Apr 15; 134A(2):220-2. PubMed ID: 15712197 [Abstract] [Full Text] [Related]
5. Molecular basis of the scalp-ear-nipple syndrome unraveled by the characterization of disease-causing KCTD1 mutants. Smaldone G, Balasco N, Pirone L, Caruso D, Di Gaetano S, Pedone EM, Vitagliano L. Sci Rep; 2019 Jul 19; 9(1):10519. PubMed ID: 31324836 [Abstract] [Full Text] [Related]
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14. 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. Am J Hum Genet; 2013 Apr 04; 92(4):621-6. PubMed ID: 23541344 [Abstract] [Full Text] [Related]