Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3

OBJECTIVES: Biallelic variants in XPNPEP3 are associated with a rare mitochondrial syndrome characterized by nephronophthisis leading to kidney failure, essential tremor, hearing loss, seizures, and intellectual disability. Only 2 publications on this condition are available. We report a man with a...

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Detalles Bibliográficos
Autores principales: Ben-Shabat, Ilan, Kvarnung, Malin, Sperker, Wolfgang, Bruhn, Helene, Wredenberg, Anna, Wibom, Rolf, Nennesmo, Inger, Engvall, Martin, Paucar, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2023
Materias:
Clinical/Scientific Note
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684053/
https://www.ncbi.nlm.nih.gov/pubmed/38035175
http://dx.doi.org/10.1212/NXG.0000000000200100

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684053/
https://www.ncbi.nlm.nih.gov/pubmed/38035175
http://dx.doi.org/10.1212/NXG.0000000000200100

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