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Article

Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta.

Human mutation - 1 Feb 2012

Martínez-Glez Víctor, Valencia Maria, Caparrós-Martín José A, Aglan Mona, Temtamy Samia, Tenorio Jair, Pulido Veronica, Lindert Uschi, Rohrbach Marianne, Eyre David, Giunta Cecilia, Lapunzina Pablo, Ruiz-Perez Victor L

Abstract excerpt

Herein, we have studied a consanguineous Egyptian family with two children diagnosed with severe autosomal recessive osteogenesis imperfecta (AR-OI) and a large umbilical hernia. Homozygosity mapping in this family showed lack of linkage to any of the previously known AR-OI genes, but revealed a 10.27 MB homozygous region on chromosome 8p in the two affected sibs, which comprised the procollagen I C-terminal...

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Source

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Identifiers

PMID: 22052668
DOI: 10.1002/humu.21647
PMCID: PMC3725821

Genes

BMP1

Provenance

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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