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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
Mol Psychiatry. 2014 Mar;19(3):368-79. doi: 10.1038/mp.2013.42. Epub 2013 Apr 16.
Mol Psychiatry. 2014.
PMID: 23587880
Free PMC article.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, Bader PI, Rosenbaum K, Vallee SE, Moeschler JB, Ladda R, Sell S, Martin J, Ryan S, Jones MC, Moran R, Shealy A, Madan-Khetarpal S, McConnell J, Surti U, Delahaye A, Heron-Longe B, Pipiras E, Benzacken B, Passemard S, Verloes A, Isidor B, Le Caignec C, Glew GM, Opheim KE, Descartes M, Eichler EE, Morton CC, Gusella JF, Schultz RA, Ballif BC, Shaffer LG.
Lamb AN, et al. Among authors: keelean fuller d.
Hum Mutat. 2012 Apr;33(4):728-40. doi: 10.1002/humu.22037.
Hum Mutat. 2012.
PMID: 22290657
Free PMC article.
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Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.
Couser NL, Keelean-Fuller D, Davenport ML, Haverfield E, Masood MM, Henin M, Aylsworth AS.
Couser NL, et al. Among authors: keelean fuller d.
Am J Med Genet A. 2018 Sep;176(9):2024-2027. doi: 10.1002/ajmg.a.40432. Epub 2018 Sep 21.
Am J Med Genet A. 2018.
PMID: 30240112
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