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Article

Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2003

Chong Belinda, Hegde Madhuri, Fawkner Matthew, Simonet Scott, Cassinelli Hamilton, Coker Mahmut, Kanis John, Seidel Joerg, Tau Cristina, Tüysüz Beyhan, Yüksel Bilgin, Love Donald

Abstract excerpt

UNLABELLED: Homozygous mutations in TNFRSF11B, the gene encoding osteoprotegerin, were found in affected members from six of nine families with idiopathic hyperphosphatasia. The severity of the phenotype was related to the predicted effects of the mutations on osteoprotegerin function. INTRODUCTION: Idiopathic hyperphosphatasia (IH) is a rare high bone turnover congenital bone disease in which affected children...

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Identifiers

PMID: 14672344
DOI: 10.1359/jbmr.2003.18.12.2095

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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