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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Библиографические подробности

Главные авторы:	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
Формат:	Artigo
Язык:	Inglês
Опубликовано:	Frontiers Media S.A. 2024-01-01
Серии:	Frontiers in Genetics
Предметы:	DHCR24 desmosterolosis genotype–phenotype correlation structural biology medical genetics bioinformatics
Online-ссылка:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1307934/full
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