Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing

Overview of attention for article published in Frontiers in Pediatrics, April 2022

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Prenatal diagnosis of fetuses with 15q11.2 BP1-BP2 microdeletion in the Chinese population: a seven-year single-center retrospective study

Article in Molecular Cytogenetics (September 2024)

A de novo mutation in the COL1A1 gene leading to severe osteogenesis imperfecta: Case report and review of the literature

Article in American Journal of Perinatology Reports (August 2024)

A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures

Article in BMC Medical Genomics (January 2023)

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