Article
iPSC reprogramming of fibroblasts from a patient with a Rothmund-Thomson syndrome RTS.
Stem cell research - 1 May 2020
Gatinois Vincent, Desprat Romain, Pichard Lydiane, Becker Fabienne, Goldenberg Alice, Balguerie Xavier, Pellestor Franck, Lemaitre Jean-Marc
Abstract excerpt
Rothmund-Thomson Syndrome (RTS) is a rare autosomal recessive disease that manifests several clinical features of accelerated aging. These findings include atrophic skin and pigment changes, alopecia, osteopenia, cataracts, and an increased incidence of cancer for patients. Mutations in RECQL4 gene are responsible for cases of RTS. RECQL4 belongs to the RECQ DNA helicase family which has been shown to participate...
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