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State of the Science for Kidney Disorders in Phelan-McDermid Syndrome: UPK3A, FBLN1, WNT7B, and CELSR1 as Candidate Genes.
Genes (Basel). 2022 Jun 10;13(6):1042. doi: 10.3390/genes13061042.
Genes (Basel). 2022.
PMID: 35741804
Free PMC article.
Review.
Variability in Phelan-McDermid syndrome: The impact of the PNPLA3 p.I148M polymorphism.
Boccuto L, Abenavoli L, Cascio L, Srikanth S, DuPont B, Mitz AR, Rogers RC, Phelan K.
Boccuto L, et al. Among authors: rogers rc.
Clin Genet. 2018 Dec;94(6):590-591. doi: 10.1111/cge.13451. Epub 2018 Oct 11.
Clin Genet. 2018.
PMID: 30308089
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