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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27.
Am J Hum Genet. 2021.
PMID: 33909992
Free PMC article.
A case of Singleton-Merten syndrome without cardiac involvement harboring a novel IFIH1 variant.
Vengoechea J, DiMonda J.
Vengoechea J, et al. Among authors: dimonda j.
Am J Med Genet A. 2020 Jun;182(6):1535-1536. doi: 10.1002/ajmg.a.61556. Epub 2020 Mar 23.
Am J Med Genet A. 2020.
PMID: 32202700
No abstract available.
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