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

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

Abstract 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...

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Bibliographic Details
Main Authors: Ramón Peces, Rocío Mena, Yolanda Martín, Concepción Hernández, Carlos Peces, Dolores Tellería, Emilio Cuesta, Rafael Selgas, Pablo Lapunzina, Julián Nevado
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
autosomal dominant polycystic kidney disease (ADPKD)
neurofibromatosis type 1 (NF1)
next‐generation sequencing (NGS)
NF1 mutation
optic pathway gliomas
PKD2
Online Access:https://doi.org/10.1002/mgg3.1321

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