Expanding the genotypic and phenotypic spectrum of EAST/SeSAME syndrome: identification of a novel homozygous mutation (c.194 G > A) in KCNJ10 gene.

Autor: Yari, Abolfazl1,2 (AUTHOR), Dalvand, Leyla (AUTHOR), Moghaddam, Bahareh Esmaeili (AUTHOR), Khorasani, Nima Norouzi (AUTHOR), Esmaeili, Fatemeh (AUTHOR), Attari, Rezvan (AUTHOR), Gohari, Atieh Karimi (AUTHOR), Vafaeie, Farzane (AUTHOR), Jafarinejad-Farsangi, Saeideh (AUTHOR), Khoshnazar, Shivasadat (AUTHOR), Saeidi, Kolsoum3 (AUTHOR) k_saeidi@kmu.ac.ir
Zdroj: Neurological Sciences. Nov2024, p1-17.
Databáze: Academic Search Ultimate
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