EXOSC9 mutation causes pontocerebellar hypoplasia type 1D (PCH1D): Refining the phenotype and literature review

Autor: Khamirani, Hossein Jafari, Sichani, Ali Saber, Panahandeh, Seyed Mehdi, Zoghi, Sina, Tabei, Seyed Sajjad, Darayee, Maryam, Talebzadeh, Mahdieh, Dianatpour, Mehdi, Dastgheib, Seyed Alireza, Tabei, Seyed Mohammad Bagher
Zdroj: In Gene Reports June 2022 27
Databáze: ScienceDirect