A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement
MRPS14（uS14m）的变异会导致围产期肥厚性心肌病，伴有新生儿乳酸性酸中毒、生长迟缓、畸形特征和神经系统受累
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddy374
Christopher B Jackson, Martina Huemer, Ramona Bolognini, Franck Martin, Gabor Szinnai, Birgit C Donner, Uwe Richter, Brendan J Battersby, Jean-Marc Nuoffer, Anu Suomalainen, André Schaller
