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2011 | 1 |
2017 | 1 |
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Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
Am J Hum Genet. 2011 Aug 12;89(2):289-94. doi: 10.1016/j.ajhg.2011.06.007. Epub 2011 Jul 21.
Am J Hum Genet. 2011.
PMID: 21782149
Free PMC article.
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O.
Novara F, et al.
Eur J Hum Genet. 2017 Jun;25(6):694-701. doi: 10.1038/ejhg.2017.49. Epub 2017 Apr 19.
Eur J Hum Genet. 2017.
PMID: 28422132
Free PMC article.
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Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature.
Gao F, Zhao X, Cao B, Fan X, Li X, Li L, Sui S, Su Z, Gong C.
Gao F, et al.
J Pers Med. 2022 Mar 5;12(3):407. doi: 10.3390/jpm12030407.
J Pers Med. 2022.
PMID: 35330407
Free PMC article.
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