Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study

Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations of DHCR24 encoding 3-β-hydroxysterol Δ-24-reduc...

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Detalhes bibliográficos

Principais autores:	Dario Cocciadiferro, Tommaso Mazza, Davide Vecchio, Tommaso Biagini, Francesco Petrizzelli, Emanuele Agolini, Andrea Villani, Daniele Minervino, Diego Martinelli, Cristiano Rizzo, Sara Boenzi, Filippo Maria Panfili, Paola Sabrina Buonuomo, Marina Macchiaiolo, Andrea Bartuli, Antonio Novelli
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2024-01-01
coleção:	Frontiers in Genetics
Assuntos:	DHCR24 desmosterolosis genotype–phenotype correlation structural biology medical genetics bioinformatics
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1307934/full
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