LAUSR

CEDNIK syndrome with phenotypic variability

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1 Published in 2022 at "Pediatric Dermatology"

DOI: 10.1111/pde.14961

Abstract: CEDNIK syndrome is a rare autosomal recessive syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma of which 25 cases from 19 families have been reported to date. It is a progressive neurodegenerative disorder caused… read more here.

Keywords: syndrome phenotypic; phenotypic variability; dermatology; cednik syndrome ... See more keywords