1. A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. (24th October 2018) Authors: Jackson, Christopher B; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André Journal: Human molecular genetics Issue: Volume 28:Number 4(2019) Page Start: 639 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗