Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses.
Biglari S, Rezaei H, Asadollahzadeh E, Nikuei P, Sahraian MA, Sohanforooshan Moghaddam A, Vahidnezhad H, Youssefian L, Galehdari H, Seifi T, Chamanrou N, Heydaran S, Parvas S, Shariati G, Saberi A, Hamid M, Zareei T, Tabasi S, Ranjbar S, Khademi G, Golmakani H, Hashemi N, Akhavan H, Naseri M, Donyadideh N, Barkhordari E, Beiraghi Toosi M, Arabi S, Heidari N, Eghbal F, Badpar H, Saeidinia A, Imannezhad S, Bagheri S, Lotfi M, Mirsadraee M, Loghmani T, Darabi A, Derafshi R, Behmadi M, Boskabadi A, Akhondian S, Eshraghi P, Hosseini M, Farhat A, Ghane Sharbaf F, Norooziasl S, Ghaemi N, Ahangari N, Etemadifar M, Moosavian T, Shervin Badv R, Houlden H, Sarraf P, Haghighatzadeh M, Heidari M, Ghayoor Karimiani E.
Biglari S, et al. Among authors: lotfi m.
Hum Genet. 2026 Feb 2;145(1):17. doi: 10.1007/s00439-025-02812-3.
Hum Genet. 2026.
PMID: 41627539
No abstract available.
