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Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.
Genes (Basel). 2023 Jul 25;14(8):1514. doi: 10.3390/genes14081514.
Genes (Basel). 2023.
PMID: 37628566
Free PMC article.
Review.
Possible underreporting of pathogenic variants in RAI1 causing Smith-Magenis syndrome.
Boot E, Linders CC, Tromp SH, van den Boogaard MJ, van Eeghen AM.
Boot E, et al. Among authors: linders cc.
Am J Med Genet A. 2021 Oct;185(10):3167-3169. doi: 10.1002/ajmg.a.62380. Epub 2021 Jun 4.
Am J Med Genet A. 2021.
PMID: 34089220
Free PMC article.
No abstract available.
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