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Article

NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.

Frontiers in endocrinology - 1 Jan 2023

Sałacińska Kinga, Pinkier Iwona, Rutkowska Lena, Chlebna-Sokół Danuta, Jakubowska-Pietkiewicz Elżbieta, Michałus Izabela, Kępczyński Łukasz, Salachna Dominik, Wieczorek-Cichecka Nina, Piotrowicz Małgorzata, Chilarska Tatiana, Jamsheer Aleksander, Matusik Paweł, Wilk Małgorzata, Petriczko Elżbieta, Giżewska Maria, Stecewicz Iwona, Walczak Mieczysław, Rybak-Krzyszkowska Magda, Lewiński Andrzej, Gach Agnieszka

Abstract excerpt

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%-90% of cases have dominantly inherited heterozygous pathogenic variants located in the COL1A1 and COL1A2 genes....

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Identifiers

PMID: 37810882
DOI: 10.3389/fendo.2023.1149982
PMCID: PMC10556695

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