Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease - Bilal Shamsi, Monis; Saleh, Mohamed; Almuntashri, Makki; Alharby, Essa; Samman, Manar; Peake, Roy W. A.; Al-Fadhli, Fatima M.; Alasmari, Ali; Faqeih, Eissa A.; Almontashiri, Naif A. M. (Journal of human genetics, 2021)
Keywords: Congenital diseases; Hearing loss; Intellectual disabilities; Microencephaly; Protein transport