CEDNIK syndrome

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CEDNIK syndrome2016-11-25T07:21:35+00:00

CEDNIK syndrome

NEUROLOGY

Definition An autosomal recessive neurocutaneous syndrome (OMIM:609528) characterised by an acronym:

• CErebral Dysgenesis

Neuropathy

• Ichthyosis

• palmoplantar Keratoderma.  

Molecular pathology Defects of SNAP29, which encodes a protein involved in multiple membrane trafficking steps that is localised to intracellular membrane structures, cause CEDNIK syndrome.  

References http://www.uniprot.org/uniprot/O95721

http://www.omim.org/entry/609528

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