All Relations between hycc1 and peripheral nervous system

Publication Sentence Publish Date Extraction Date Species
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