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Article

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.

American journal of medical genetics. Part A - 1 May 2014

Valencia María, Caparrós-Martin Jose A, Sirerol-Piquer María Salomé, García-Verdugo José Manuel, Martínez-Glez Víctor, Lapunzina Pablo, Temtamy Samia, Aglan Mona, Lund Allan M, Nikkels Peter G J, Ruiz-Perez Victor L, Ostergaard Elsebet

Abstract excerpt

Osteogenesis imperfecta is a genetic condition characterized by bone fragility and recurrent fractures, which in the large majority of patients are caused by defects in the production of type I collagen. Mutations in the gene encoding bone morphogenetic protein 1 (BMP1, also known as procollagen C-endopeptidase) have been associated with osteogenesis imperfecta in two sib pairs. In this report, we describe an...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24648371
DOI: 10.1002/ajmg.a.36427

Genes

BMP1

Variants

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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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