A 235 Kb deletion at 17q21.33 encompassing the COL1A1, and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report

BACKGROUND: Osteogenesis imperfecta (OI) is a rare group of disorders characterized by increased susceptibility to fractures due to genetically determined bone fragility. About 90% of cases are due to mutations in COL1A1 (17q21.33) or COL1A2 (7q21.3) resulting in quantitative or qualitative defects...

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Detalles Bibliográficos
Autores principales: Numbere, Numbereye, Weber, David R., Porter, George, Iqbal, Mohammed A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284024/
https://www.ncbi.nlm.nih.gov/pubmed/32281310
http://dx.doi.org/10.1002/mgg3.1241

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7284024/
https://www.ncbi.nlm.nih.gov/pubmed/32281310
http://dx.doi.org/10.1002/mgg3.1241

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