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CEDNIK Syndrome in a Brazilian Patient with Compound Heterozygous Pathogenic Variants.

Natalia Nunes,Malu Zamariolli,Anelisa Gollo Dantas,Paula Cola,Francisco de Agostinho Junior,Flavia Balbo Piazzon,Vera Ayres Meloni,Maria Isabel Melaragno

European Journal of Medical Genetics（2022）

Cited 1|Views17
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Key words
CEDNIK syndrome,Cerebral dysgenesis,Neuropathy,Ichthyosis,Keratoderma,Deletion,Mutation
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