A mosaic variant in CTNNB1/β-catenin as a novel cause for osteopathia striata with cranial sclerosis
Source
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
Source
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
Source
Nutrients - ISSN 2072-6643-15:3 (2023) p. 1-15
Osteopetrosis associated with PLEKHM1 and SNX10 genes, both involved in osteoclast vesicular trafficking
Source
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
Source
Genes - ISSN 2073-4425-13:1 (2022) p.