Associated Papers
First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view.
Ben Issa A et al.
Journal of Human Genetics, 2025
Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.
Traverso M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013
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