Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome
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DOI: 10.1038/s41398-022-01859-4
Abstract: The 22q11.2 deletion syndrome (22q11.2DS) is characterized by a well-defined microdeletion and is associated with increased risk of neurodevelopmental phenotypes including autism spectrum disorders (ASD) and intellectual impairment. The typically deleted region in 22q11.2DS contains… read more here.
Keywords: analysis; 22q11 2ds; metabolic signature; 22q11 deletion ... See more keywords