The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease
Abstract Background Family genetic testing of patients newly diagnosed with a rare genetic disease can improve early diagnosis of family members, allowing patients to receive disease‐specific therapies when available. Fabry disease, an X‐linked lysosomal storage disorder caused by pathogenic variant...
Main Authors: | , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Wiley
2021-05-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1666 |