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This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

This study found that Atractylodes macrocephala Koidz. extract promotes anagen entry and hair regrowth by enhancing dermal papilla cell activity and supporting hair cycle progression in a mouse model.

"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.

This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.

This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.