Disease: Keratoderma palmoplantar deafness
- A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness
- AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect
- Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene
- Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification
- Bart-Pumphrey Syndrome
- Bart-Pumphrey syndrome and recurrent cholesteatoma: a casual association?
- Case of palmoplantar keratoderma with sensorineural deafness and mental retardation that may be another variant of syndromic palmoplantar keratoderma
- Case Report: A Novel <em>GJB2</em> Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness
- Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness
- Classification of aplasia cutis congenita: a 25-year review of cases presenting to a tertiary paediatric dermatology department
- Connecting with connexins
- Connexin channels in congenital skin disorders
- Connexin hemichannel inhibition ameliorates epidermal pathology in a mouse model of keratitis ichthyosis deafness syndrome
- Extra-palmoplantar skin lesions of palmoplantar keratoderma with deafness caused by a mitochondrial mutation
- G130V de novo mutation in case with nonsyndromic hearing loss without palmoplantar keratoderma
- Hereditary Hearing Impairment with Cutaneous Abnormalities
- Ichthyosis follicularis syndromes in patients with mutations in GJB2
- Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK)
- Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene
- Overview of skin diseases linked to connexin gene mutations
- Palmoplantar keratoderma with deafness due to GJB2 mutation can develop ichthyosiform symptoms: a case report
- Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant
- Palmoplantar papules and hyperkeratosis in a deaf man
- Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1
- Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations
- Vohwinkel Syndrome