Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A
Expanded Phenotypic Spectrum of Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome: A Rare Case Featuring Supraventricular Tachycardia and Tethered Spinal Cord.
Fuad N et al.
Cureus, 2025
CEDNIK Syndrome - A Report of a Clinically Recognizable Disorder with Prenatal Diagnosis.
Bijarnia-Mahay S et al.
Indian Journal of Pediatrics, 2024
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.
Mah-Som AY et al.
Neurology. Genetics, 2021
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Llaci L et al.
Human Genetics, 2019
Snap29 mutant mice recapitulate neurological and ophthalmological abnormalities associated with 22q11 and CEDNIK syndrome.
Keser V et al.
Communications Biology, 2019
A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.
Diggle CP et al.
Plos One, 2017
New Arab family with cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome suggests a possible founder effect for the c.223delG mutation.
Ben-Salem S et al.
The Journal of Dermatology, 2015
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
McDonald-McGinn DM et al.
Journal of Medical Genetics, 2013
CEDNIK syndrome results from loss-of-function mutations in SNAP29.
Fuchs-Telem D et al.
The British Journal of Dermatology, 2011
CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.
Hsu T et al.
Child Neurology Open, 0
CErebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome with Brain Stem Malformation.
Karunakaran S et al.
Annals of Indian Academy of Neurology, 0
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