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Article

Occam's razor dulled: the occurrence of multiple genetic diagnoses.

Current opinion in pediatrics - 1 Dec 2021

Linscott Kristin B, Cassady Jennifer A, Robin Nathaniel H

Abstract excerpt

PURPOSE OF REVIEW: A single genetic diagnosis, especially from the analysis of a limited number of genes, may not signal the end of a diagnostic odyssey. When a patient with a genetic syndrome presents with symptoms that are not usually associated with their disease phenotype, additional genetic testing is warranted. RECENT FINDINGS: Although multiple co-existing genetic diagnoses may sound unlikely, many recent...

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PMID: 34654050
DOI: 10.1097/MOP.0000000000001072

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