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Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency

Multiple sulfatase deficiency (MSD) is a rare recessively inherited Mendelian disorder that manifests with developmental delay, neurodegeneration, skeletal deformities, facial dysmorphism, congenital growth retardation, and other clinical signs. The disorder is caused by mutations in the SUMF1 gene,...

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Detalles Bibliográficos
Autores principales: Fleming, Angeleen, Xuan, Low Zhe, Sanchez-Elexpuru, Gentzane, Williams, Sarah V., Windell, Dylan, Gelb, Michael H., Herbst, Zackary M., Schlotawa, Lars, Rubinsztein, David C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9203071/
https://www.ncbi.nlm.nih.gov/pubmed/35721514
http://dx.doi.org/10.3389/fcell.2022.843079