Mounting evidence suggests that DNA damage plays a central role in aging. Multiple tiers of
defense have evolved to reduce the accumulation of DNA damage, including reducing …

Progeroid disorders make up a heterogeneous group of very rare hereditary diseases
characterized by clinical signs that often mimic physiological aging in a premature manner …

Deoxyribonucleic acid (DNA) replication can be divided into three major steps: initiation,
elongation and termination. Each time a human cell divides, these steps must be …

RECQL4 is a member of the evolutionarily conserved RecQ family of 3'to 5'DNA helicases.
RECQL4 is critical for maintaining genomic stability through its functions in DNA repair …

Abstract Background Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures,
myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described …

Biallelic mutations in RECQL4 gene, a caretaker of the genome, cause Rothmund-Thomson
type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase …

A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a
newborn male, following a pregnancy complicated by polyhydramnios and intrauterine …

Abstract Purpose The 22q11. 2 deletion syndrome (22q11. 2DS) is the most common
microdeletion in humans, with highly variable phenotypic expression. Whereas congenital …

Background Poikiloderma is defined as a chronic skin condition presenting with a
combination of punctate atrophy, areas of depigmentation, hyperpigmentation and …

Rothmund–Thomson syndrome (RTS) is a rare autosomal‐recessive disorder characterized
by poikiloderma, short stature, sparse hair, skeletal abnormalities, and cancer …