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

Q3

Autores:

Germain, Dominique P.
Moiseev, Sergey
Suárez-Obando, F.
Al Ismaili, Faisal
Al Khawaja, Huda
Altarescu, Gheona
Barreto, Fellype C.
Haddoum, Farid
Hadipour, Fatemeh
Maksimova, Irina
Kramis, Mirelle
Nampoothiri, Sheela
Ngoc Nguyen, Khanh
Niu, Dau-Ming
Politei, Juan
Ro, Long-Sun
Vu Chi, Dung
Chen, Nan
Kutsev, Sergey

Tipo de recurso:

Article of investigation

Fecha de publicación:

2021

Institución:

Pontificia Universidad Javeriana

Repositorio:

Repositorio Universidad Javeriana

Idioma:

eng

OAI Identifier:

oai:repository.javeriana.edu.co:10554/54850

Acceso en línea:

https://onlinelibrary.wiley.com/doi/full/10.1002/mgg3.1666
http://hdl.handle.net/10554/54850
https://doi.org/10.1002/mgg3.1666

Palabra clave:

At-risk populations screening
Cascade genotyping
Early diagnosis
Fabry disease
Family genetic testing
Pedigree drawing
Rare disease

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Atribución-NoComercial 4.0 Internacional