A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC.
Heinen CA, et al. Among authors: schaefer gb.
J Med Genet. 2016 May;53(5):330-7. doi: 10.1136/jmedgenet-2015-103233. Epub 2016 Jan 14.
J Med Genet. 2016.
PMID: 26769062
Free PMC article.