Associated Papers
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.
Mah-Som AY et al.
Neurology. Genetics, 2021
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
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