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erythrokeratodermia variabilis
(phenotype)
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Genetic Markers
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GJB4
GJB3
PERP
KDSR
AP1S1
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REACTOME_MEMBRANE_TRAFFICKING
GNF2_SERPINB5
REACTOME_GAP_JUNCTION_ASSEMBLY
Connexin, conserved site
connexin complex
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OMIM - MEDNIK syndrome
OMIM - Erythrokeratodermia variabilis
Mouse Phenotypes - Skin disorder
OMIM - Congenital disorder
OMIM - Skin Related Disorders
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Most Relevant Literature
Netherton syndrome in a Bulgarian patient : Presentation of a case and an update of therapeutic opti…
Erythrokeratodermia variabilis with hypertrichosis on the lesions.
ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Aci…
Erythrokeratodermia variabilis].
Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratod…
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National Registry for Ichthyosis and Related Disorders
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