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