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This study reported that mice on a phenylalanine-deficient diet showed symptoms such as weight loss, gastric dilation, and thymic depletion, which echo human phenylalanine deficiency manifestations.

In this study, transgenic mice altered to express a Clim-inhibiting molecule under a keratin promoter showed corneal degradation and hair follicle failure, highlighting Clim proteins' role in maintaining these tissues.

This retrospective study in Morocco confirms that Stevens-Johnson and Lyell syndromes lead to severe ocular and unsightly mucocutaneous sequelae, significantly affecting patients' social and professional integration.

This case report of an infant with AEC syndrome highlights the importance of early and aggressive management of ocular complications to preserve vision and reduce the risk of amblyopia.

This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.