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Article

Advances in Skeletal Dysplasia Genetics.

Annual review of genomics and human genetics - 1 Jan 2015

Geister Krista A, Camper Sally A

Abstract excerpt

Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature. They occur in approximately 1/5,000 births, and some are lethal. Since the most recent publication of the Nosology and Classification of Genetic Skeletal Disorders, genetic causes of 56 skeletal disorders have been uncovered. This remarkable rate of discovery is largely due to...

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Source

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Identifiers

PMID: 25939055
DOI: 10.1146/annurev-genom-090314-045904
PMCID: PMC5507692

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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