A mosaic variant in CTNNB1/β-catenin as a novel cause for osteopathia striata with cranial sclerosis
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The journal of clinical endocrinology and metabolism - ISSN 0021-972X-109:7 (2024) p. 1891-1898
An additional Lrp4 high bone mass mutation mitigates the sost-knockout phenotype in mice by increasing bone remodeling
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Calcified tissue international - ISSN 0171-967X-114:2 (2024) p. 171-181
Genetic Screening of ZNF687 and PFN1 in a Paget's Disease of Bone Cohort Indicates an Important Role for the Nuclear Localization Signal of ZNF687
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Calcified tissue international - ISSN 0171-967X-113:5 (2023) p. 552-557
Identification of a novel nonsense variant in the DLL3 gene underlying spondylocostal dysostosis in a consanguineous Pakistani family
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Molecular syndromology - ISSN 1661-8769-14:3 (2023) p. 191-200
A recessive form of craniodiaphyseal dysplasia caused by a homozygous missense variant in SP7/Osterix
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Bone - ISSN 8756-3282-167 (2023) p. 1-9