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Expanding the Phenotype of B3GALNT2-Related Disorders
Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) that include a broad phenotypic spectrum ranging from late-onset limb-girdle muscular dystrophy to severe muscle–eye–brain disease, Walker–Warburg syndrome, and Fukuyama congenital muscular dystrophy. In addition to clinical...
Autores principales: | D’haenens, Erika, Vergult, Sarah, Menten, Björn, Dheedene, Annelies, Kooy, R. Frank, Callewaert, Bert |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9024883/ https://www.ncbi.nlm.nih.gov/pubmed/35456500 http://dx.doi.org/10.3390/genes13040694 |
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