All Relations between hycc1 and peripheral nervous system
Publication | Sentence | Publish Date | Extraction Date | Species |
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Abir Ben Issa, Fatma Kamoun, Boudour Khabou, Wafa Bouchaala, Faiza Fakhfakh, Chahnez Trik. First description of novel compound heterozygous mutations in HYCC1: clinical evaluations and molecular analysis in patient with hypomyelinating leukodystrophy-5 with retrospective view. Journal of human genetics. 2024-10-29. PMID:39468300. | hypomyelinating leukodystrophy-5 (hld5) is a rare autosomal recessive hypomyelination disorder characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system, caused by mutations in the hycc1 gene. | 2024-10-29 | 2024-10-31 | Not clear |