CTC1 mutations in a Brazilian family with progeroid features and recurrent bone fractures.

Forough SargolzaeiavalJiaming ZhangJennifer SchleitDavor LesselChristian KubischDebora R PreciosoDavid SillenceFuki M HisamaMichael DorschnerGeorge M MartinJunko Oshima

Published in: Molecular genetics & genomic medicine (2018)

CTC1 pathogenic variants can present with unusual manifestations of progeria accompanied with recurrent bone fractures. Further studies are needed to elucidate the disease mechanism leading to the clinical presentation with intra-familial variations of CRMCC.

Keyphrases

bone mineral density
circulating tumor cells
soft tissue
bone loss
bone regeneration
circulating tumor
copy number
postmenopausal women
case control