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MON-923 MENIN Gene Mutation: Unity Amidst Diversity

Introduction The MEN 1 syndrome is an enigmatic disorder, manifesting a wide spectrum of disorders, in members of a family, harbouring the same gene mutation. We present one such family, with a MENIN gene mutation with marked diversity in the clinical presentation Clinical cases 1992: RB (Age: 13) p...

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書誌詳細
出版年:J Endocr Soc
主要な著者: Rais, Nadeem M, Kumar, Anshul, Jain, Swetha, Scaria, Vinod, Prakash, Savinitha, Mathur, Sandeep Kumar, Joshi, Apoorva
フォーマット: Artigo
言語:Inglês
出版事項: Oxford University Press 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208113/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1711
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