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KAT6B Disorders.
2012 Dec 13 [updated 2020 Jan 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2012 Dec 13 [updated 2020 Jan 2]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
PMID: 23236640
Free Books & Documents.
Review.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX, Lemire G, Gonzaga-Jauregui C, Molidperee S, Galaz-Montoya C, Liu DS, Verloes A, Shillington AG, Izumi K, Ritter AL, Keena B, Zackai E, Li D, Bhoj E, Tarpinian JM, Bedoukian E, Kukolich MK, Innes AM, Ediae GU, Sawyer SL, Nair KM, Soumya PC, Subbaraman KR, Probst FJ, Bassetti JA, Sutton RV, Gibbs RA, Brown C, Boone PM, Holm IA, Tartaglia M, Ferrero GB, Niceta M, Dentici ML, Radio FC, Keren B, Wells CF, Coubes C, Laquerrière A, Aziza J, Dubucs C, Nampoothiri S, Mowat D, Patel MS, Bracho A, Cammarata-Scalisi F, Gezdirici A, Fernandez-Jaen A, Hauser N, Zarate YA, Bosanko KA, Dieterich K, Carey JC, Chong JX, Nickerson DA, Bamshad MJ, Lee BH, Yang XJ, Lupski JR, Campeau PM.
Zhang LX, et al. Among authors: campeau pm, lemire g.
Genet Med. 2020 Aug;22(8):1338-1347. doi: 10.1038/s41436-020-0811-8. Epub 2020 May 19.
Genet Med. 2020.
PMID: 32424177
Free PMC article.
Review.
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Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.
Lemire GT, Beauregard-Lacroix É, Campeau PM, Parent S, Roy-Beaudry M, Soglio DD, Grignon A, Rypens F, Wavrant S, Laberge AM, Delrue MA.
Lemire GT, et al. Among authors: campeau pm.
Am J Med Genet A. 2020 Apr;182(4):664-672. doi: 10.1002/ajmg.a.61468. Epub 2019 Dec 27.
Am J Med Genet A. 2020.
PMID: 31880412
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De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.
Humbert J, Salian S, Makrythanasis P, Lemire G, Rousseau J, Ehresmann S, Garcia T, Alasiri R, Bottani A, Hanquinet S, Beaver E, Heeley J, Smith ACM, Berger SI, Antonarakis SE, Yang XJ, Côté J, Campeau PM.
Humbert J, et al. Among authors: campeau pm, lemire g.
Am J Hum Genet. 2020 Sep 3;107(3):564-574. doi: 10.1016/j.ajhg.2020.08.002. Epub 2020 Aug 20.
Am J Hum Genet. 2020.
PMID: 32822602
Free PMC article.
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