Associated Papers
Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.
Paller AS et al.
The British Journal of Dermatology, 2025
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis.
Wong KM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Comparative genetic diagnostic evaluation of pediatric neuromuscular diseases in a consanguineous population.
Al-Hedaithy A et al.
Scientific Reports, 2025
Disorders of fatty acid homeostasis.
Vaz FM et al.
Journal of Inherited Metabolic Disease, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
41170324 (PubMed )
Supplement: Data_Sheet_5.XLS › NDD-NPDs
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
38837156 (PubMed )
Supplement: jamanetwopen-e2415084-s002.xlsx › eTable_2
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.
Mueller N et al.
Journal of Medical Genetics, 2019
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
Kutkowska-Kaźmierczak A et al.
Journal of Medical Genetics, 2018
Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab.
Marcoux D et al.
Pediatric Dermatology, 0
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