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Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Luis Rohena1,2, Michelle Lawson3, Edwin Guzman1
1Division of Clinical Genetics, Department of Pediatrics, Columbia University Medical Center, New York, New York.
Fat mass and obesity-associated gene (FTO) loss-of-function mutations cause lethal malformation syndromes. This study identifies a new FTO variant linked to a similar syndrome, expanding the known phenotype.
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