Phenotype of c.92G >C (p.G31A) mutation in the EXOSC3 gene – 14 new cases and comparison with other causes of pontocerebellar hypoplasia type 1

• DOI: 10.1016/j.ejpn.2017.04.848
• Publication Date: 2017-06-14T17:46:17Z
• Authors: I. Ivanov; A. Jordanova; I. Litvinenko; L. Angelova; H. Mumdjiev; I. Pacheva; M. Panova; R. Yordanova; D. Atkinson; V. Belovejdov; S. Andonova; M. Bosheva; T. Shmilev; A. Savov
• Keywords: 03 medical and health sciences; 0302 clinical medicine