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Article

Osteogenesis imperfecta type I: The role of deep phenotyping in a patient with a ruptured uterus.

European journal of medical genetics - 1 Dec 2020

Redman Melody Grace, Wagner Bart E, Balasubramanian Meena

Abstract excerpt

As molecular diagnosis of Osteogenesis Imperfecta has become more accessible, there is an increasing ability to consider additional techniques to undertake deep phenotyping of the patient. In this report, we present the details of a female patient with type I Osteogenesis Imperfecta caused due to a pathogenic COL1A1 variant, who suffered from uterine rupture during labour in her second pregnancy, at age 33. Her...

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Identifiers

PMID: 33166682
DOI: 10.1016/j.ejmg.2020.104095

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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