Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes | Journal of Medical Genetics

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Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes

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Cite this article as:: Tuysuz B, Uludag Alkaya D, Geyik F, et al

Biallelic frameshift variants in PHLDB1 cause mild-type osteogenesis imperfecta with regressive spondylometaphyseal changes

Journal of Medical Genetics 2023;60:819-826.