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The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome

14 Apr 2023

Abstract excerpt

High-throughput sequencing has become a standard first-tier approach for both diagnostics and research-based genetic testing. Consequently, this hypothesis-free testing manner has revealed the true breadth of clinical features for many established genetic disorders, including Meier-Gorlin syndrome (MGORS). Previously known as ear-patella short stature syndrome, MGORS is characterized by growth delay, microtia,...

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PMID: 37059840
DOI: 10.1038/s41431-023-01359-z

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