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Article

Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.

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

Pollitt Rebecca C, Saraff Vrinda, Dalton Ann, Webb Emma A, Shaw Nick J, Sobey Glenda J, Mughal M Zulf, Hobson Emma, Ali Farhan, Bishop Nicholas J, Arundel Paul, Högler Wolfgang, Balasubramanian Meena

Abstract excerpt

Osteogenesis Imperfecta (OI) is an inherited bone fragility disorder most commonly associated with autosomal dominant mutations in the type I collagen genes. Autosomal recessive mutations in a number of genes have also been described, including the BMP1 gene that encodes the mammalian Tolloid (mTLD) and its shorter isoform bone morphogenic protein-1 (BMP1). To date, less than 20 individuals with OI have been...

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Source

Identifiers

PMID: 27576954
DOI: 10.1002/ajmg.a.37958

Genes

BMP1

Variants

Provenance

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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