Clinical and genetic characteristics of Cornelia de Lange syndrome in 19 Chinese pediatric patients (IMAGE)

Pediatric Investigation

Clinical and genetic characteristics of Cornelia de Lange syndrome in 19 Chinese pediatric patients

Caption

Cornelia de Lange syndrome (CdLS) presentation involves craniofacial anomalies. Mutations in seven genes have been associated with CdLS. However, the clinical presentation and mutational profiles of CdLS in the Chinese population are unknown.

Credit

Xiaoqiao Li Image Source Link: https://onlinelibrary.wiley.com/doi/10.1002/ped4.70013

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CC BY-SA

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