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Keywords: Kyphoscoliosis
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Journal Articles
Subject Area:
Genetics
Journal:
Molecular Syndromology
Mol Syndromol (2024) 15 (5): 409–420.
Published Online: 16 April 2024
... present a case of two siblings with the B3GAT3 variant. The 14-year-old boy exhibited short stature, severe kyphoscoliosis, splenomegaly, and aortic root dilatation, along with several physical abnormalities including bifid uvula, blue sclera, limited elbow extension, and pectus carinatum. His 6-year-old...
