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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
Am J Hum Genet. 2020 Aug 6;107(2):352-363. doi: 10.1016/j.ajhg.2020.06.013. Epub 2020 Jul 20.
Am J Hum Genet. 2020.
PMID: 32693025
Free PMC article.
ALG11-CDG syndrome: Expanding the phenotype.
Haanpää MK, Ng BG, Gallant NM, Singh KE, Brown C, Kimonis V, Freeze HH, Muller EA 2nd.
Haanpää MK, et al. Among authors: muller ea 2nd.
Am J Med Genet A. 2019 Mar;179(3):498-502. doi: 10.1002/ajmg.a.61046. Epub 2019 Jan 24.
Am J Med Genet A. 2019.
PMID: 30676690
Free PMC article.
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