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Article

The recurrent homozygous translation start site variant in CCDC134 in an individual with severe osteogenesis imperfecta of non-Morrocan ancestry.

American journal of medical genetics. Part A - 1 May 2022

Ali Taccyanna M, Linnenkamp Bianca D W, Yamamoto Guilherme L, Honjo Rachel S, Cabral de Menezes Filho Hamilton, Kim Chong Ae, Bertola Débora R

Abstract excerpt

Osteogenesis imperfecta (OI) is a rare low-bone mass skeletal Mendelian disorder characterized by bone fragility leading to bone fractures, with deformities and stunted growth in the more severe phenotypes. Other common, nonskeletal findings include blue sclerae and dentinogenesis imperfecta. It is caused mainly by quantitative or structural defects in type I collagen, although dysregulation of different...

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PMID: 35019224
DOI: 10.1002/ajmg.a.62651

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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