CEDNIK syndrome with phenotypic variability

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 by the loss‐of‐function pathogenic variant of the...

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Veröffentlicht in:	Pediatric dermatology 2022-07, Vol.39 (4), p.650-652
Hauptverfasser:	Nanda, Arti, Karam, Tarek M., AlLafi, Atlal
Format:	Artikel
Sprache:	eng
Schlagworte:	CEDNIK syndrome Cerebrum Dermatology Genetic disorders Genetic variability Genotype & phenotype Ichthyosis Neurodegenerative diseases Neurodevelopmental disorders Neuropathy Palmoplantar keratoderma Pediatrics phenotypic variability Skin diseases SNAP receptors
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