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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...
Autores principales: | Rais, Nadeem M, Kumar, Anshul, Jain, Swetha, Scaria, Vinod, Prakash, Savinitha, Mathur, Sandeep Kumar, Joshi, Apoorva |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208113/ http://dx.doi.org/10.1210/jendso/bvaa046.1711 |
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