Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination

Chelban V, Patel N, Vandrovcova J, Zanetti MN, Lynch DS, Ryten M, Botia JA, Bello O, Tribollet E, Efthymiou S, Davagnanam I; SYNAPSE Study Group, Bashiri FA, Wood NW, Rothman JE, Alkuraya FS, Houlden H. Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination. Am J Hum Genet. 2017 Jun 1;100(6):969-977.

PubMed ID: 
28575651