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Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting
Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS). The broad clinical heterogeneity of MPS II can be partly ascribed to the high level of molecular d...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8260476/ https://www.ncbi.nlm.nih.gov/pubmed/34258136 http://dx.doi.org/10.1002/jmd2.12214 |