Article
Co-occurrence of neurofibromatosis type 1 and optic nerve gliomas with autosomal dominant polycystic kidney disease type 2.
Molecular genetics & genomic medicine - 1 Aug 2020
Peces Ramón, Mena Rocío, Martín Yolanda, Hernández Concepción, Peces Carlos, Tellería Dolores, Cuesta Emilio, Selgas Rafael, Lapunzina Pablo, Nevado Julián
Abstract excerpt
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 coexistence of ADPKD and NF1 in a single individual have been reported, but the possible implications of this...
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