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...

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Main Authors: Dominique P. Germain, Sergey Moiseev, Fernando Suárez‐Obando, Faisal Al Ismaili, Huda Al Khawaja, Gheona Altarescu, Fellype C. Barreto, Farid Haddoum, Fatemeh Hadipour, Irina Maksimova, Mirelle Kramis, Sheela Nampoothiri, Khanh Ngoc Nguyen, Dau‐Ming Niu, Juan Politei, Long‐Sun Ro, Dung Vu Chi, Nan Chen, Sergey Kutsev
Format: Article
Language:English
Published: Wiley 2021-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1666