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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.
In memory of Murray Feingold (1930-2015).
Schaefer GB, Nowak CB, Olney AH. Schaefer GB, et al. Am J Med Genet A. 2016 Jul;170(7):1727-31. doi: 10.1002/ajmg.a.37729. Epub 2016 May 5. Am J Med Genet A. 2016. PMID: 27149416 No abstract available.
Robin sequence.
Olney AH, Kolodziej P, MacDonald MR, Schaefer GB. Olney AH, et al. Among authors: schaefer gb. Ear Nose Throat J. 1997 Sep;76(9):620. Ear Nose Throat J. 1997. PMID: 9309903 No abstract available.
Stickler syndrome.
MacDonald MR, Kolodziej P, Schaefer GB, Olney AH. MacDonald MR, et al. Among authors: schaefer gb. Ear Nose Throat J. 1997 Oct;76(10):706. Ear Nose Throat J. 1997. PMID: 9345813 No abstract available.
171 results