Associated Papers
Genetic Landscape of Mucosal Melanoma: Identifying Pathogenic Germline Variants.
Ribaudo I et al.
Pigment Cell & Melanoma Research, 2025
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Averdunk L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Diabetic Kidney Disease.
Lazaro-Guevara J et al.
American Journal of Nephrology, 2021
Somatic and germline analysis of a familial Rothmund-Thomson syndrome in two siblings with osteosarcoma.
Gutiérrez-Jimeno M et al.
Npj Genomic Medicine, 2020
Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma.
Maciaszek JL et al.
Cold Spring Harbor Molecular Case Studies, 2019
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund-Thomson Syndrome sibs with mild phenotype.
Colombo EA et al.
European Journal of Human Genetics : Ejhg, 2014
Rare presentation of Rothmund-Thomson syndrome with novel compound heterozygous mutations of the RECQL4 gene.
Zhang X et al.
Anais Brasileiros De Dermatologia, 0
Sporadic form of epidermolysis bullosa simplex with mottled pigmentation.
Ferreira FR et al.
Anais Brasileiros De Dermatologia, 0
Select a paper to view details