Erythrokeratodermia Variabilis et Progressiva 4 With KDSR Mutations: A Case Report.

A Pediatric Case of KRT2 Nonsyndromic Epidermal Differentiation Disorder With a Concurrent GJB4 Variant.

A novel missense mutation responsible for a patient with unique erythrokeratodermia variabilis with skin lesions in a swirling pattern.

Recessive mosaicism in ABCA12 causes a unique phenotype of segmental congenital ichthyosiform erythroderma mimicking erythrokeratodermia variabilis.

The evolving genetic landscape of ILVEN: A comprehensive review.

Erythrokeratodermia Variabilis et Progressiva With Compound Heterozygous ABCA12 Variants.

Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the NIPAL4 Gene.

Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.

Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function.

The genetic and molecular basis of a connexin-linked skin disease.

Protean cutaneous manifestation caused by ABCA12 variants: erythrokeratodermia variabilis-like ichthyosis and unique palmoplantar keratoderma.

Adult-onset erythrokeratodermia variabilis (EKV) triggered by pregnancy and crash dieting: A rare case report.

Four cases of Chanarin-Dorfman syndrome presenting with different types of erythrokeratoderma.

Novel compound heterozygous MPDU1 variants causing congenital disorders of glycosylation presenting with erythrokeratodermia variabilis.

Potential Clinical Benefit of Very Long Chain Fatty Acid Supplementation in Spinocerebellar Ataxia Type 34.

Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations.

Novel variants in ABCA12 cause erythrokeratodermia variabilis.

Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP).

A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.

GJB4 variants linked to skin disease exhibit a trafficking deficiency en route to gap junction formation that can be restored by co-expression of select connexins.

Netherton syndrome in a Bulgarian patient : Presentation of a case and an update of therapeutic options.

ELOVL4 Mutations That Cause Spinocerebellar Ataxia-34 Differentially Alter Very Long Chain Fatty Acid Biosynthesis.

Incompletely penetrant TRPM4-associated progressive symmetric erythrokeratodermia responses to methotrexate.

A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update.

Annular Epidermolytic Ichthyosis Mimicking Greither Disease: A Case Report and Literature Review.

Interrogation of Carboxy-Terminus Localized GJA1 Variants Associated with Erythrokeratodermia Variabilis et Progressiva.

Erythrokeratodermia variabilis et progressiva due to a novel mutation in GJB4.

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.

Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.

[Diagnosis and progress in the progressive symmetric erythrokeratodermia].

The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.

Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.

Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4.

MEDNIK-like syndrome due to compound heterozygous mutations in AP1B1.

Annular epidermolytic ichthyosis: a case report and literature review.

Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant.

Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree.

Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34.

Erythrokeratodermia variabilis with hypertrichosis on the lesions.

Erythrokeratodermia variabilis et progressiva with a rare GJB3 mutation.

Identification of a CDH12 potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family.

Novel and recurrent mutations in GJB3 and GJB4 cause erythrokeratodermia variabilis et progressiva.

Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B.

The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.

A Case of Erythrokeratodermia Variabilis in Korean.

[Progressive symmetric erythrokeratodermia: Activating mutations of TRPM4].

Recessive mosaicism in ABCA12 causes blaschkoid congenital ichthyosiform erythroderma.

Pluripotent stem cell-derived bile canaliculi-forming hepatocytes to study genetic liver diseases involving hepatocyte polarity.

Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressiva.

Chronic symmetrically distributed hyperpigmented plaques in a middle-age woman.

Connexin43 mutations linked to skin disease have augmented hemichannel activity.

A heterozygous mutation in GJA1 gene in Chinese family with serious erythrokeratodermia variabilis et progressive.

A20 and ABIN1 Suppression of a Keratinocyte Inflammatory Program with a Shared Single-Cell Expression Signature in Diverse Human Rashes.

Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia.

Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia.

A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.

Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva.

A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.

Exome Sequencing Identifies a Novel Nonsense Mutation of MYO6 as the Cause of Deafness in a Brazilian Family.

Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix.

Inflammatory Linear Verrucous Epidermal Nevus with a Postzygotic GJA1 Mutation Is a Mosaic Erythrokeratodermia Variabilis et Progressiva.

Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7.

Erythrokeratodermia variabilis et progressiva.

Japanese sporadic case of erythrokeratodermia variabilis caused by the connexin-30.3 (GJB4) mutation: Is Glycine 12 a mutational hotspot in the connexin family?

Herpes simplex virus in erythrokeratoderma variabilis.

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.

Case of erythrokeratodermia variabilis successfully treated with oral vitamin A.

Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.

A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34.

Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasia.

The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.