Latest papers

C-terminally truncated kindlin-1 leads to abnormal adhesion and migration of keratinocytes.

The H syndrome is caused by mutations in the nucleoside transporter hENT3.

Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.

Kindler syndrome: a study of five Egyptian cases with evaluation of severity.

The H syndrome: a genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations.

A novel frameshift mutation in the KIND1 gene in Turkish siblings with Kindler syndrome.

Six novel mutations of the ADAR1 gene in Chinese patients with dyschromatosis symmetrica hereditaria.

Cutaneous gene delivery.

Kindler syndrome and periodontal disease: review of the literature and a 12-year follow-up case.

Dermatopathology and molecular genetics

Genetic test for HERDA.

An approach to achieve long-term expression in skin gene therapy.

Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis.

Leg ulcers: a new symptom of Blau syndrome?

De novo occurrence of the 730insG recurrent mutation in an Italian family with the ichthyotic variant of Vohwinkel syndrome, loricrin keratoderma.

Multiple unilateral skin tumors suggest type 1 segmental manifestation of familial syringoma.

Cutaneous Mosaicism: a Molecular and Clinical Review

Erythrokeratodermia variabilis: successful palliative treatment with acitretin.

A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets.

Clinical investigation of acitretin in children with severe inherited keratinization disorders in China.