A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature. - Lerat, Justine; Cintas, Pascal; Beauvais‐Dzugan, Hélène; Magdelaine, Corinne; Sturtz, Franck; Lia, Anne‐Sophie (Journal of the Peripheral Nervous System, 2017)