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Article

Nosology and classification of genetic skeletal disorders: 2006 revision.

American journal of medical genetics. Part A - 1 Jan 2007

Superti-Furga Andrea, Unger Sheila

Abstract excerpt

The objective of the paper is to provide the revision of the Nosology of Constitutional Disorders of Bone that incorporates newly recognized disorders and reflects new molecular and pathogenetic concepts. Criteria for inclusion of disorders were (1) significant skeletal involvement corresponding to the definition of skeletal dysplasias, metabolic bone disorders, dysostoses, and skeletal malformation and/or...

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Identifiers

PMID: 17120245
DOI: 10.1002/ajmg.a.31483

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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