A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1.
Nadine A M E van der BeekIsabelle NelsonRoseline FroissartThierry LevadeVirginie GarciaEmmanuelle LaceneAnne BolandCécile MassonNorma B RomeroTanya StojkovicGisèle BonneAnthony BéhinPublished in: European journal of human genetics : EJHG (2018)