Biallelic Mismatch Repair Deficiency in an Adolescent Female

Constitutional (Biallelic) Mismatch Repair Deficiency is a rare autosomal recessive disorder characterized by numerous cancers presenting as early as the first decade of life. Biallelic germline variants in one of four mismatch repair genes (MLH1, MSH2, MSH6, or PMS2) cause this devastating disease....

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Detalles Bibliográficos
Autores principales: Hildreth, Amber, Valasek, Mark A., Thung, Irene, Savides, Thomas, Sivagnanam, Mamata, Ramamoorthy, Sonia, Huang, Sherry C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6092986/
https://www.ncbi.nlm.nih.gov/pubmed/30155321
http://dx.doi.org/10.1155/2018/8657823

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6092986/
https://www.ncbi.nlm.nih.gov/pubmed/30155321
http://dx.doi.org/10.1155/2018/8657823

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