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Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review

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Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with variable multisystem involvement and genetic heterogeneity. We aimed to analyze the clinical and genetic characteristics of Chinese individuals… Click to show full abstract

Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with variable multisystem involvement and genetic heterogeneity. We aimed to analyze the clinical and genetic characteristics of Chinese individuals with CdLS.

Keywords: characteristics chinese; lange syndrome; clinical genetic; genetic characteristics; chinese individuals; cornelia lange

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2020

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