Associated Papers
New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra.
Mah-Som AY et al.
Neurology. Genetics, 2021
Sugary Logistics Gone Wrong: Membrane Trafficking and Congenital Disorders of Glycosylation.
Linders PTA et al.
International Journal of Molecular Sciences, 2020
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
Llaci L et al.
Human Genetics, 2019
CEDNIK: Phenotypic and Molecular Characterization of an Additional Patient and Review of the Literature.
Hsu T et al.
Child Neurology Open, 0
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