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DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis
The Journal of Clinical Investigation ( IF 13.3 ) Pub Date : 2019-12-05 , DOI: 10.1172/jci130206 Barbara Rivera , Javad Nadaf , Somayyeh Fahiminiya , Maria Apellaniz-Ruiz , Avi Saskin , Anne-Sophie Chong , Sahil Sharma , Rabea Wagener , Timothée Revil , Vincenzo Condello , Zineb Harra , Nancy Hamel , Nelly Sabbaghian , Karl Muchantef , Christian Thomas , Leanne de Kock , Marie-Noëlle Hébert-Blouin , Angelia V. Bassenden , Hannah Rabenstein , Ozgur Mete , Ralf Paschke , Marc P. Pusztaszeri , Werner Paulus , Albert Berghuis , Jiannis Ragoussis , Yuri E. Nikiforov , Reiner Siebert , Steffen Albrecht , Robert Turcotte , Martin Hasselblatt , Marc R. Fabian , William D. Foulkes
The Journal of Clinical Investigation ( IF 13.3 ) Pub Date : 2019-12-05 , DOI: 10.1172/jci130206 Barbara Rivera , Javad Nadaf , Somayyeh Fahiminiya , Maria Apellaniz-Ruiz , Avi Saskin , Anne-Sophie Chong , Sahil Sharma , Rabea Wagener , Timothée Revil , Vincenzo Condello , Zineb Harra , Nancy Hamel , Nelly Sabbaghian , Karl Muchantef , Christian Thomas , Leanne de Kock , Marie-Noëlle Hébert-Blouin , Angelia V. Bassenden , Hannah Rabenstein , Ozgur Mete , Ralf Paschke , Marc P. Pusztaszeri , Werner Paulus , Albert Berghuis , Jiannis Ragoussis , Yuri E. Nikiforov , Reiner Siebert , Steffen Albrecht , Robert Turcotte , Martin Hasselblatt , Marc R. Fabian , William D. Foulkes
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.
中文翻译：
DGCR8微处理器缺陷表征家族性多结节性甲状腺肿伴神经鞘瘤病
背景。DICER1是与遗传性肿瘤综合征相关的唯一miRNA生物发生成分，具有多结节性甲状腺肿（MNG）和少见的小儿发作病灶。家族形式的MNG的其他易感基因可能存在。
更新日期：2020-03-19
中文翻译：
DGCR8微处理器缺陷表征家族性多结节性甲状腺肿伴神经鞘瘤病
背景。DICER1是与遗传性肿瘤综合征相关的唯一miRNA生物发生成分，具有多结节性甲状腺肿（MNG）和少见的小儿发作病灶。家族形式的MNG的其他易感基因可能存在。
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