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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2020
Assuntos:
Clinical Medicine
Acesso em linha: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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