Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a distinctive facial appearance, growth/cognitive retardation, developmental delay, skeletal malformation, hypertrichosis, and other abnormalities. Patients with mild CdLS have less severe phenotypes, while retaining repre...
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          | Main Authors: | So Yoon Choi, Yoo-Rha Hong, Chi-Eun Oh, Jung Hyun Lee | 
|---|---|
| Format: | Article | 
| Language: | English | 
| Published: | MDPI AG
    
        2024-11-01 | 
| Series: | Children | 
| Subjects: | |
| Online Access: | https://www.mdpi.com/2227-9067/11/12/1433 | 
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