research Zinc transporter ZIP13 G289R variant from Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) is associated with abnormal hair quality
The ZIP13 variant is linked to abnormal hair quality.
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5 / 1000+ resultsresearch Zinc and Zinc Transporters in Dermatology
This review discusses the role of zinc and its transporters in skin health and disorders, providing an overview without presenting new clinical results.
research The Role of the Slc39a Family of Zinc Transporters in Zinc Homeostasis in Skin
This review discusses the relationship between zinc deficiency and skin disorders, emphasizing zinc transporters' roles, but it reports no new clinical results; the authors highlight potential benefits of regulating zinc levels via transporters.
research Ehlers-Danlos syndrome: From bedside to bench
This research abstract outlines the innovative approach of the Frontiers journal series, which aims to transform academic publishing by providing open access, interdisciplinary journals that employ a rigorous peer-review process to serve both scholarly communities and the public.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
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