DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

BACKGROUND: DICER1 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. METHODS: Whole-exome sequencing of a kindred with early-onse...

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Dettagli Bibliografici
Pubblicato in:J Clin Invest
Autori principali: Rivera, Barbara, Nadaf, Javad, Fahiminiya, Somayyeh, Apellaniz-Ruiz, Maria, Saskin, Avi, Chong, Anne-Sophie, Sharma, Sahil, Wagener, Rabea, Revil, Timothée, Condello, Vincenzo, Harra, Zineb, Hamel, Nancy, Sabbaghian, Nelly, Muchantef, Karl, Thomas, Christian, de Kock, Leanne, Hébert-Blouin, Marie-Noëlle, Bassenden, Angelia V., Rabenstein, Hannah, Mete, Ozgur, Paschke, Ralf, Pusztaszeri, Marc P., Paulus, Werner, Berghuis, Albert, Ragoussis, Jiannis, Nikiforov, Yuri E., Siebert, Reiner, Albrecht, Steffen, Turcotte, Robert, Hasselblatt, Martin, Fabian, Marc R., Foulkes, William D.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Clinical Investigation 2020
Soggetti:
Clinical Medicine
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7269565/
https://ncbi.nlm.nih.gov/pubmed/31805011
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI130206
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