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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 clinica...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Front Pediatr
Prif Awduron: Krawczynska, Natalia, Wierzba, Jolanta, Wasag, Bartosz
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Frontiers Media S.A. 2019
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6530423/
https://ncbi.nlm.nih.gov/pubmed/31157197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00203
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