Work

Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2

Year: 2004

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.30231

Authors: Russia Ha‐Vinh, Yasemin Alanay, Ruud A. Bank, Ana Belinda Campos‐Xavier, Andreas Zankl, Andrea Superti‐Furga, Luisa Bonafé

Institutions: University of Lausanne, Hacettepe University, Netherlands Organisation for Applied Scientific Research, Centre Hospitalier Universitaire Vaudois

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Award: Molecular Basis of Human Skeletal Dysplasias

OpenAlex ID: W2034337754

FWCI: 2.308

Cites: 37

Cited by: 192

Related to: 10