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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
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Review Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8172211/
https://ncbi.nlm.nih.gov/pubmed/33835733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1666
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