Serra-Juhe, Clara

Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors. [electronic resource] - European journal of human genetics : EJHG 12 2019 - 1774-1782 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review

1476-5438

10.1038/s41431-019-0415-4 doi


Genetic Carrier Screening
Genetic Counseling
Heterozygote
Humans
Infant, Newborn
Muscular Atrophy, Spinal--diagnosis
Mutation
Neonatal Screening
Pedigree
Survival of Motor Neuron 1 Protein--genetics