A specific mutation in TBL1XR1 causes Pierpont syndrome

Charlotte A. Heinen, Aldo Jongejan, Peter J. Watson, Bert Redeker, Anita Boelen, Olga Boudzovitch-Surovtseva, Francesca Forzano, Roel Hordijk, Richard Kelley, Ann H. Olney, Mary Ella Pierpont, G. Bradley Schaefer, Fiona Stewart, A. S Paul van Trotsenburg, Eric Fliers, John W R Schwabe, Raoul C. Hennekam

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Medicine & Life Sciences