Genetic Mosaicism in a Group of Patients With Cornelia de Lange Syndrome

Background: Cornelia de Lange Syndrome (CdLS) is a heterogeneous disorder. Diverse expression of clinical symptoms can be caused by a variety of pathogenic variants located within the sequence of different genes correlated with the cohesin complex.Methods: Sixty-nine patients with confirmed clinical...

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Bibliographic Details
Main Authors: Natalia Krawczynska, Jolanta Wierzba, Bartosz Wasag
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Pediatrics
Subjects:
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00203/full