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Article

Expansile Skeletal Hyperphosphatasia: A New Familial Metabolic Bone Disease

1 Dec 2000

Abstract excerpt

We describe a new familial metabolic bone disease characterized by expanding hyperostotic long bones, early onset deafness, premature tooth loss, and episodic hypercalcemia. The condition affects a mother and daughter studied at the age of 36 years and 11 years, respectively. Both individuals lost all hearing in early childhood and suffered premature shedding of teeth. Skeletal pains began just before puberty....

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Identifiers

PMID: 11127198
DOI: 10.1359/jbmr.2000.15.12.2330

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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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