Exome sequencing reveals a novel PRPS1 mutation in a family with CMTX5 without optic atrophy.
Park J, Hyun YS, Kim YJ, Nam SH, et al.
J Clin Neurol. 2013 Oct;9(4):283-288.
Ciliary Genes TBC1D32/C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX.
Adly N, Alhashem A, Ammari A, Alkuraya FS.
Hum Mutat. 2013 Nov 6. [Epub ahead of print]