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Article

Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.

Molecular genetics & genomic medicine - 1 Jan 2018

Essawi Osama, Symoens Sofie, Fannana Maha, Darwish Mohammad, Farraj Mohammad, Willaert Andy, Essawi Tamer, Callewaert Bert, De Paepe Anne, Malfait Fransiska, Coucke Paul J

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is a heterogeneous hereditary connective tissue disorder clinically hallmarked by increased susceptibility to bone fractures. METHODS: We analyzed a cohort of 77 diagnosed OI patients from 49 unrelated Palestinian families. Next-generation sequencing technology was used to screen a panel of known OI genes. RESULTS: In 41 probands, we identified 28 different disease-causing...

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Share to Calcification, Physiologic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 29150909
DOI: 10.1002/mgg3.331
PMCID: PMC5823677

Genes

BMP1
CRTAP
FKBP10
SERPINF1
SERPINH1

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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