Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.
Quiroz V, Planas-Serra L, Sveden A, Tam A, Kim HM, Zubair U, Resch D, Saffari A, Danzi MC, Züchner S, Chopra M, Schierbaum L, Pujol A, Eklund EA, Ebrahimi-Fakhari D.
Quiroz V, et al. Among authors: eklund ea.
J Clin Invest. 2024 Jul 11;134(17):e178919. doi: 10.1172/JCI178919.
J Clin Invest. 2024.
PMID: 38990652
Free PMC article.
No abstract available.