Co‐occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) and neurofibromatosis type 1 (NF1) are both autosomal dominant disorders with a high rate of novel mutations. However, the two disorders have distinct and well‐delineated genetic, biochemical, and clinical findings. Only a few cases of...

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Publicado en:Mol Genet Genomic Med
Autores principales: Peces, Ramón, Mena, Rocío, Martín, Yolanda, Hernández, Concepción, Peces, Carlos, Tellería, Dolores, Cuesta, Emilio, Selgas, Rafael, Lapunzina, Pablo, Nevado, Julián
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley and Sons Inc. 2020
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7434601/
https://ncbi.nlm.nih.gov/pubmed/32533764
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1321
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