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Article

A new case of osteogenesis imperfecta type VIII and retinal detachment.

American journal of medical genetics. Part A - 1 Jan 2021

de Souza Liliane Todeschini, Nunes Ricardo Rodrigues, de Azevedo Magalhães Otavio, Maria Félix Têmis

Abstract excerpt

Osteogenesis imperfecta (OI) type VIII (OMIM: 610915) is a rare autosomal recessive disorder characterized by white sclerae, severe growth deficiency, and bone fragility. This condition results from pathogenic variants of P3H1, a gene that codes for P3H1, an important protein involved in the prolyl-3-hydroxylation complex required for collagen type I folding. Here, we described a woman with OI type VIII due to a...

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Identifiers

PMID: 33098264
DOI: 10.1002/ajmg.a.61934

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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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