Ontology highlight
ABSTRACT:
SUBMITTER: Rivera B
PROVIDER: S-EPMC7269565 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Rivera Barbara B Nadaf Javad J Fahiminiya Somayyeh S Apellaniz-Ruiz Maria M Saskin Avi A Chong Anne-Sophie AS Sharma Sahil S Wagener Rabea R Revil Timothée T Condello Vincenzo V Harra Zineb Z Hamel Nancy N Sabbaghian Nelly N Muchantef Karl K Thomas Christian C de Kock Leanne L Hébert-Blouin Marie-Noëlle MN Bassenden Angelia V AV Rabenstein Hannah H Mete Ozgur O Paschke Ralf R Pusztaszeri Marc P MP Paulus Werner W Berghuis Albert A Ragoussis Jiannis J Nikiforov Yuri E YE Siebert Reiner R Albrecht Steffen S Turcotte Robert R Hasselblatt Martin M Fabian Marc R MR Foulkes William D WD
The Journal of clinical investigation 20200301 3
BACKGROUNDDICER1 is the only miRNA biogenesis component associated with an inherited tumor syndrome, featuring multinodular goiter (MNG) and rare pediatric-onset lesions. Other susceptibility genes for familial forms of MNG likely exist.METHODSWhole-exome sequencing of a kindred with early-onset MNG and schwannomatosis was followed by investigation of germline pathogenic variants that fully segregated with the disease. Genome-wide analyses were performed on 13 tissue samples from familial and no ...[more]