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Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome’s clinical and molecular spectrum through NALCN in-silico structural analysis

IntroductionInfantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1, MIM#615419) is a rare, birth onset, autosomal recessive disorder caused by homozygous or compound heterozygous truncating variants in NALCN gene (MIM#611549) resulting in a loss-of-function effect.Metho...

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Main Authors: Davide Vecchio, Marina Macchiaiolo, Michaela V. Gonfiantini, Filippo M. Panfili, Francesco Petrizzelli, Niccolò Liorni, Fabiana Cortellessa, Lorenzo Sinibaldi, Ippolita Rana, Emanuele Agolini, Dario Cocciadiferro, Nicole Colantoni, Michela Semeraro, Cristiano Rizzo, Annalisa Deodati, Nicola Cotugno, Serena Caggiano, Elisabetta Verrillo, Carlotta G. Nucci, Serpil Alkan, Jorge M. Saraiva, Joaquim De Sá, Pedro M. Almeida, Jayanth Krishna, Paola S. Buonuomo, Diego Martinelli, Carlo Dionisi Vici, Viviana Caputo, Andrea Bartuli, Antonio Novelli, Tommaso Mazza
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Genetics
Subjects:
NALCN
IHPRF1
CLIFAHDD
channelosome complex
genotype-phenotype correlation
rhythmic behaviors
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2024.1477940/full
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