A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement

Added 224 days ago (28.04.2021)
Authors: 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
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