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STAC3D Against the Odds: Characterizing the Musculoskeletal Phenotype of STAC3 Gene Disorder.

2026-07-24, Journal of pediatric orthopedics (10.1097/BPO.0000000000003424) (online)
Zachary R Visco, Nathaniel C Adams, Malvika Choudhari, Anna Vergun, Joseph Stone, James O Sanders, and Stuart L Mitchell (?)
STAC3 Disorder (STAC3D) is a rare genetic condition characterized by musculoskeletal abnormalities, myopathic facies, palatal anomalies, micrognathia, short stature, and an increased susceptibility to malignant hyperthermia. It was initially described in the Lumbee Native Americans of North Carolina, though it is now found globally. This study aims to characterize the musculoskeletal phenotype of STAC3D to aid in its diagnosis and clinical management.
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