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Article

CEDNIK syndrome in a Brazilian patient with compound heterozygous pathogenic variants.

European journal of medical genetics - 1 Mar 2022

Nunes Natália, Zamariolli Malú, Dantas Anelisa Gollo, Cola Paula, de Agostinho Júnior Francisco, Piazzon Flavia Balbo, Meloni Vera Ayres, Melaragno Maria Isabel

Abstract excerpt

CEDNIK (Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma) syndrome is a neuro ichthyotic syndrome characterized by a clinical constellation of features including severe developmental delay, microcephaly, and facial dysmorphism. Here, we report the clinical and molecular characterization of a patient with CEDNIK syndrome harboring two compound heterozygous variants in the SNAP29 gene. The patient...

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Identifiers

PMID: 35093605
DOI: 10.1016/j.ejmg.2022.104440

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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