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Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
Genes (Basel). 2023 Jun 28;14(7):1363. doi: 10.3390/genes14071363.
Genes (Basel). 2023.
PMID: 37510268
Free PMC article.
Review.
Phenotypic Spectrum of NFIA Haploinsufficiency: Two Additional Cases and Review of the Literature.
Bertini V, Cambi F, Orsini A, Bonuccelli A, Fiorini A, Santangelo A, Scacciati M, Elia M, Galesi O, Peroni D, Valetto A.
Bertini V, et al. Among authors: scacciati m.
Genes (Basel). 2022 Nov 30;13(12):2249. doi: 10.3390/genes13122249.
Genes (Basel). 2022.
PMID: 36553517
Free PMC article.
Review.
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