Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome

Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome

22q11.2 deletion syndrome (22q11.2DS) is the most common genomic disorder with an extremely broad phenotypic spectrum. The aim of our study was to investigate how often the additional variants in the genome can affect clinical variation among patients with the recurrent deletion. To examine the pres...

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Bibliographic Details
Main Authors: Marta Smyk, Maciej Geremek, Kamila Ziemkiewicz, Tomasz Gambin, Anna Kutkowska-Kaźmierczak, Katarzyna Kowalczyk, Izabela Plaskota, Barbara Wiśniowiecka-Kowalnik, Magdalena Bartnik-Głaska, Magdalena Niemiec, Dominika Grad, Małgorzata Piotrowicz, Dorota Gieruszczak-Białek, Aleksandra Pietrzyk, T. Blaine Crowley, Victoria Giunta, Daniel E. McGinn, Elaine H. Zackai, Oanh Tran, Beverly S. Emanuel, Donna M. McDonald-McGinn, Beata A. Nowakowska
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Genes
Subjects:
22q11.2DS
genomic disorder
copy number variation
CNV
single nucleotide variant
SNV
Online Access:https://www.mdpi.com/2073-4425/14/3/680

Internet

https://www.mdpi.com/2073-4425/14/3/680

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