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Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

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Description scientific article published on 02 July 2019
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author: Anna Rubegni  Filippo Maria Santorelli  Claudia Nesti  Marina Pedemonte  Chiara Fiorillo  Mariasavina Severino 

Publication date July 2, 2019
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