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
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
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
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.
Klee KMC et al.
Human Genetics, 2020
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
Neuro-ichthyotic Syndromes: A Case Series.
Incecık F et al.
Journal of Pediatric Neurosciences, 0
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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