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Updated: Oct 22, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Heterozygous variant in WNT1 gene in two brothers with early onset osteoporosis

Christie G Turin1, Kyu Sang Joeng2, Staci Kallish3

  • 1Department of Medicine, Division of Endocrinology, Diabetes and Metabolism, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Blvd., 4th floor, Philadelphia, PA 19104, USA.

Bone Reports
|August 30, 2021
PubMed

Keywords:
ACMG, American College of Medical GeneticsBMD, Bone mineral densityDXA, dual-energy X-ray absorptiometryEarly osteoporosisFragility fracturesGenetic variantVUS, variant of unknown significanceWNT1 pathway

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