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Article

Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.

American journal of medical genetics. Part A - 1 Feb 2016

Balasubramanian Meena, Cartwright Ashley, Smith Kath, Arundel Paul, Bishop Nicholas J

Abstract excerpt

We report a sibling-pair and a 4-year old child from two families with an atypical presentation in Osteogenesis imperfecta (OI). In the sib-pair, the older sibling initially came to medical attention due to a fracture history (Patient 1) and she was shown to have a COL1A2 mutation. In addition, she also had developmental delay, facial dysmorphism, and a history of frequent infections which led to a search for an...

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Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Comparative Genomic Hybridization

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Source

Identifiers

PMID: 26471105
DOI: 10.1002/ajmg.a.37431

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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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