Disease: Cerebral dysgenesis- neuropathy- ichthyosis- and palmoplantar keratoderma syndrome
- <em>Snap29</em> mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome
- A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development
- A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma
- CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants
- CEDNIK syndrome in an Indian patient with a novel mutation of the SNAP29 gene
- CEDNIK syndrome results from loss-of-function mutations in SNAP29
- CEDNIK syndrome with phenotypic variability
- CEDNIK Syndrome: Report of an Ultra-Rare Case from India
- CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature
- Establishment of Two Mouse Models for CEDNIK Syndrome Reveals the Pivotal Role of SNAP29 in Epidermal Differentiation
- Generation and Characterization of a CRISPR/Cas9-Mediated <em>SNAP29</em> Knockout in Human Fibroblasts
- Multiple functions of the SNARE protein Snap29 in autophagy, endocytic, and exocytic trafficking during epithelial formation in Drosophila
- NEK3-mediated SNAP29 phosphorylation modulates its membrane association and SNARE fusion dependent processes
- Neuroimaging in CEDNIK Syndrome: A Rare Neuro-Ichthyosis
- New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation
- New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra
- Ocular manifestations of genetic skin disorders