P242: Tissue specific pathogenic NIPBL variant causing Cornelia de Lange syndrome: A call to clinicians

Bibliographic Details
Main Authors: Lakshmi Mehta, Yakira Begun, May Sanyoura, Christine Stanley
Format: Article
Language:English
Published: Elsevier 2024-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S294977442400284X