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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...

詳細記述

保存先:
書誌詳細
出版年:Mol Genet Genomic Med
主要な著者: Peces, Ramón, Mena, Rocío, Martín, Yolanda, Hernández, Concepción, Peces, Carlos, Tellería, Dolores, Cuesta, Emilio, Selgas, Rafael, Lapunzina, Pablo, Nevado, Julián
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2020
主題:
オンライン・アクセス: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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