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- (2024) p. 1-8
Unraveling the genetic landscape of high bone mass disorders and Paget’s disease of bone: From variant identification and validation to zebrafish modeling
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Antwerpen, Universiteit Antwerpen, Faculteit Farmaceutische, Biomedische en Diergeneeskundige Wetenschappen, Departement Biomedische Wetenschappen, 2023,194 p.
Osteocytic sclerostin expression as an indicator of altered bone turnover
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Nutrients - ISSN 2072-6643-15:3 (2023) p. 1-15
Osteopetrosis associated with PLEKHM1 and SNX10 genes, both involved in osteoclast vesicular trafficking
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Bone - ISSN 8756-3282-164 (2022) p. 1-5
Identification of compound heterozygous variants in LRP4 demonstrates that a pathogenic variant outside the third β-propeller domain can cause sclerosteosis
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Genes - ISSN 2073-4425-13:1 (2022) p.