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-109:7 (2024) p. 1891-1898
Author(s)

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

Source
Calcified tissue international - ISSN 0171-967X-113:5 (2023) p. 552-557
Author(s)

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.
Author(s)

Osteopetrosis associated with PLEKHM1 and SNX10 genes, both involved in osteoclast vesicular trafficking

Source
Bone - ISSN 8756-3282-164 (2022) p. 1-5