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The Identification of a Novel Fucosidosis-Associated FUCA1 Mutation: A Case of a 5-Year-Old Polish Girl with Two Additional Rare Chromosomal Aberrations and Affected DNA Methylation Patterns

Fucosidosis is a rare neurodegenerative autosomal recessive disorder, which manifests as progressive neurological and psychomotor deterioration, growth retardation, skin and skeletal abnormalities, intellectual disability and coarsening of facial features. It is caused by biallelic mutations in FUCA...

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Detalles Bibliográficos
Autores principales: Domin, Agnieszka, Zabek, Tomasz, Kwiatkowska, Aleksandra, Szmatola, Tomasz, Deregowska, Anna, Lewinska, Anna, Mazur, Artur, Wnuk, Maciej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7827884/
https://www.ncbi.nlm.nih.gov/pubmed/33435586
http://dx.doi.org/10.3390/genes12010074