Article

Rothmund-Thomson Syndrome-like RECQL4 truncating mutations cause a haploinsufficient low bone mass phenotype in mice

2020-11-12

Abstract excerpt

Rothmund-Thomson Syndrome (RTS) is an autosomal recessive disorder characterized by poikiloderma, sparse or absent hair, and defects in the skeletal system such as bone hypoplasia, short stature, low bone mass, and an increased incidence of osteosarcoma. RTS type 2 patients typically present with germline compound bi-allelic protein-truncating mutations of RECQL4 . As existing murine models predominantly employ...

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Literature Corpus work: aae64da9-69d8-5394-a08f-225720a506fc
DOI: 10.1101/2020.11.11.379214

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