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Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-Linked LAS1L Gene

LAS1L encodes a nucleolar ribosomal biogenesis protein and is also a component of the Five Friends of Methylated CHTOP (5FMC) complex. Mutations in the LAS1L gene can be associated with Wilson–Turner syndrome (WTS) and, much more rarely, severe infantile hypotonia with respiratory failure. Here, we...

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Detalles Bibliográficos
Autores principales:	Stembalska, Agnieszka, Rydzanicz, Małgorzata, Walas, Wojciech, Gasperowicz, Piotr, Pollak, Agnieszka, Pienkowski, Victor Murcia, Biela, Mateusz, Klaniewska, Magdalena, Gamrot, Zuzanna, Gronska, Ewa, Ploski, Rafal, Smigiel, Robert
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9142081/ https://www.ncbi.nlm.nih.gov/pubmed/35627110 http://dx.doi.org/10.3390/genes13050725

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