Hyperostosis corticalis generalisata
Definition:
References:
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[1]. Antoon H van Lierop, et al. Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers. J Bone Miner Res. 2013 Apr;28(4):848-54. [Content Brief]
[2]. Igor Fijalkowski, et al. A Novel Domain-Specific Mutation in a Sclerosteosis Patient Suggests a Role of LRP4 as an Anchor for Sclerostin in Human Bone. J Bone Miner Res. 2016 Apr;31(4):874-81. [Content Brief]
[3]. Liesbeth Van Wesenbeeck, et al. Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet. 2003 Mar;72(3):763-71. [Content Brief]
[4]. M E van Egmond, et al. A rare cause of facial nerve palsy in children: hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review. Eur J Paediatr Neurol. 2012 Nov;16(6):740-3. [Content Brief]
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