J Hum Genet
 2024
DOI: 10.1038/s10038-024-01300-2
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First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view

Abir Ben Issa,
Fatma Kamoun,
Boudour Khabou
et al.
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