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

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https://hal-cnrs.archives-ouvertes.fr/hal-02119070
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Submitted on : Friday, May 3, 2019 - 3:36:30 PM
Last modification on : Friday, August 23, 2019 - 1:17:32 AM

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Christopher Jackson, Martina Huemer, Ramona Bolognini, Franck Martin, Gabor Szinnai, et al.. A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human Molecular Genetics, Oxford University Press (OUP), 2019, 28 (4), pp.639-649. ⟨10.1093/hmg/ddy374⟩. ⟨hal-02119070⟩

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