research Cantú Syndrome Is Caused by Mutations in ABCC9
This study identified heterozygous mutations in the ABCC9 gene as the genetic basis of Cantú syndrome, suggesting the syndrome as a new member of potassium channelopathies.
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5 / 414 resultsresearch ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
research Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
This report identified three novel genetic mutations associated with congenital ichthyosis in Italian newborns and emphasized the importance of next-generation sequencing for personalized patient management.
research Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants
This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.
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