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

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Ben-Shabat I, Kvarnung M, Sperker W, Bruhn H, Wredenberg A, Wibom R, Nennesmo I, Engvall M, Paucar M.

Neurol Genet. 2023 Nov 28;9(6):e200100. doi: 10.1212/NXG.0000000000200100. eCollection 2023 Dec.

2023

PMID

38035175

https://doi.org/10.1212/NXG.0000000000200100

PSP

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