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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Bibliographic Details

Published in:	Children
Main Authors:	So Yoon Choi, Yoo-Rha Hong, Chi-Eun Oh, Jung Hyun Lee
Format:	Article
Language:	English
Published:	MDPI AG 2024-11-01
Subjects:	Cornelia de Lange syndrome <i>NIPBL</i> cholelithiasis nephrolithiasis
Online Access:	https://www.mdpi.com/2227-9067/11/12/1433