Frasquet M, Lupo V, Chumillas MJ, Vazquez-Costa JF, Espinos C, Sevilla T (2018)
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene
Journal of Neurology Sci 387: 134

Claramunt R, Sevilla T, Lupo V, Cuesta A, Millan JM, Vilchez JJ, Palau F, Espinos C (2007)
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4
Clin Genet 71: 343