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Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice

Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder characterized by defects in the skeletal system, such as bone hypoplasia, short stature, low bone mass, and an increased incidence of osteosarcoma. RTS type 2 patients have germ line compound biallelic protein-truncating mutations of...

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書目詳細資料
發表在:Mol Cell Biol
Main Authors: Castillo-Tandazo, Wilson, Frazier, Ann E., Sims, Natalie A., Smeets, Monique F., Walkley, Carl R.
格式: Artigo
語言:Inglês
出版: American Society for Microbiology 2021
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8088275/
https://ncbi.nlm.nih.gov/pubmed/33361189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1128/MCB.00590-20
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