A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant in SMC3 and a Literature Review

References 27

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   Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism · 2014

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    Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement · 2018

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