The benefits and challenges of family genetic testing in rare genetic diseases—lessons from Fabry disease

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 variants in GLA...

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Detalles Bibliográficos
Autores principales: Germain, Dominique P., Moiseev, Sergey, Suárez‐Obando, Fernando, Al Ismaili, Faisal, Al Khawaja, Huda, Altarescu, Gheona, Barreto, Fellype C., Haddoum, Farid, Hadipour, Fatemeh, Maksimova, Irina, Kramis, Mirelle, Nampoothiri, Sheela, Nguyen, Khanh Ngoc, Niu, Dau‐Ming, Politei, Juan, Ro, Long‐Sun, Vu Chi, Dung, Chen, Nan, Kutsev, Sergey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Review Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172211/
https://www.ncbi.nlm.nih.gov/pubmed/33835733
http://dx.doi.org/10.1002/mgg3.1666

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172211/
https://www.ncbi.nlm.nih.gov/pubmed/33835733
http://dx.doi.org/10.1002/mgg3.1666

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