Associated Papers
Keratoderma and ichthyosis as valuable features for the diagnosis of CEDNIK syndrome.
Lorenzo-Ríos D et al.
Jaad Case Reports, 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
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