AI Article Synopsis
- - Clinical exome sequencing helps tackle the diverse range of clinical and genetic variations seen in mucopolysaccharidosis (MPS).
- - The information gained from this sequencing can assist in prenatal diagnosis for MPS VII, a specific type of MPS.
- - It also supports genetic counseling and preimplantation genetic testing for families affected by MPS.
Article Abstract
Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7869334 | PMC |
| http://dx.doi.org/10.1002/ccr3.3644 | DOI Listing |
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