Latest papers

Bronchiectasis in two pediatric patients with Rothmund-Thomson syndrome.

Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome.

Molecular pathogenesis of osteosarcoma.

Short root anomaly associated with Rothmund-Thomson syndrome.

Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?

RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome

Rothmund-Thomson syndrome. The first case with plantar keratoderma and the second with coeliac disease.

An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.

Successful umbilical cord blood stem cell transplantation in a patient with Rothmund-Thomson syndrome and combined immunodeficiency.

The versatile RECQL4.

Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping.

Biochemical characterization of the RECQ4 protein, mutated in Rothmund-Thomson syndrome.

Sit down, relax and unwind: structural insights into RecQ helicase mechanisms.

The human Rothmund-Thomson syndrome gene product, RECQL4, localizes to distinct nuclear foci that coincide with proteins involved in the maintenance of genome stability.

Photoallergic contact sensitization to 6-methylcoumarin in poikiloderma of Civatte.

Neonatal diagnosis of Kindler syndrome.

[Rothmund Thomson syndrome]

Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome.

Kindler syndrome: a case report and proposal for clinical diagnostic criteria.

Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.