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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Foilsithe in:Mol Cell Biol
Main Authors: Castillo-Tandazo, Wilson, Frazier, Ann E., Sims, Natalie A., Smeets, Monique F., Walkley, Carl R.
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society for Microbiology 2021
Ábhair:
Research Article
Rochtain Ar Líne: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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