Clinical utility gene card for: Rothmund–Thomson syndrome

RECQL4 is essential for the transport of p53 to mitochondria in normal human cells in the absence of exogenous stress

(2012) S. De et al.   JOURNAL OF CELL SCIENCE

Rothmund-Thomson syndrome

(2010) Lidia Larizza et al.   Orphanet Journal of Rare Diseases

Radiographic Abnormalities in Rothmund-Thomson Syndrome and Genotype–Phenotype Correlation withRECQL4Mutation Status

(2008) Amy R. Mehollin-Ray et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

The mutation spectrum in RECQL4 diseases

(2008) H Annika Siitonen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Sensitivity of RECQL4-deficient fibroblasts from Rothmund–Thomson syndrome patients to genotoxic agents

(2008) Weidong Jin et al.   HUMAN GENETICS

Multiple cutaneous neoplasms in a patient with Rothmund–Thomson syndrome: Case report and published work review

(2008) Giuseppe STINCO et al.   JOURNAL OF DERMATOLOGY