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

ConclusionIn this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases.

Source: Molecular Genetics & Genomic Medicine - April 9, 2021 Category: Genetics & Stem Cells Authors: Dominique P. Germain, Sergey Moiseev, Fernando Su árez‐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 Tags: REVIEW ARTICLE Source Type: research