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Article

Dominant mutations in familial lethal and severe osteogenesis imperfecta.

Human genetics - 1 Jul 1991

Cohen-Solal L, Bonaventure J, Maroteaux P

Abstract excerpt

Four families presenting with familial osteogenesis imperfecta (OI) have been studied: 2 with the lethal type II and 2 with the severe type III form. Fibroblasts of the patients, all issue from non-consanguineous parents, produced normal and abnormal alpha(I) chains. These heterozygous mutations differentiate the recurrent forms from homozygous mutations characteristic of autosomal recessive forms. Although the...

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Identifiers

PMID: 1864604
DOI: 10.1007/BF00200907

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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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Dominant mutations in familial lethal and severe osteogenesis imperfecta.PMID 1864604Read ↗

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