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Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene
Alpha-mannosidosis is a lysosomal storage disorder caused by mutations in MAN2B1 gene. A 7-year-old girl child, born of a consanguineous marriage, presented with developmental delay, seizures, and hearing impairment. On examination, she had coarse features without hepatosplenomegaly. On investigatio...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9496613/ https://www.ncbi.nlm.nih.gov/pubmed/36160623 http://dx.doi.org/10.4103/jpn.JPN_71_20 |