Associated Papers
Feeding-Triggered Seizures in a Newborn with AP1S1-Related MEDNIK Syndrome: Expanding the Phenotype of a Hyper-Rare Disease.
Cavalli A et al.
Journal of Clinical Medicine, 2025
Clinical and Genetic Functional Validation of a Novel AP1S1 Mutation Causing MEDNIK Syndrome.
Duan L et al.
International Journal of Genomics, 2025
IDEDNIK syndrome: a newly recognized rare genetic disorder caused by AP1S1 and AP1B1 mutations.
Wu R et al.
Frontiers in Neurology, 2025
MEDNIK syndrome with a frame shift causing mutation in AP1S1 gene and literature review of the clinical features.
Incecik F et al.
Metabolic Brain Disease, 2018
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
Martinelli D et al.
Brain : a Journal of Neurology, 2013
Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord.
Montpetit A et al.
Plos Genetics, 2008
Clinicopathologic Features of IDEDNIK (MEDNIK) Syndrome in a Term Infant: Histopathologic Features of the Gastrointestinal Tract and Report of a Novel AP1S1 Variant.
Lu JG et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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