A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1 - Archive ouverte HAL
Article Dans Une Revue European Journal of Human Genetics Année : 2019

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

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hal-03855754 , version 1 (16-11-2022)

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Nadine Ame van der Beek, Isabelle Nelson, Roseline Froissart, Thierry Levade, Virginie Garcia, et al.. A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1. European Journal of Human Genetics, 2019, 27 (3), pp.337-339. ⟨10.1038/s41431-018-0250-z⟩. ⟨hal-03855754⟩
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