Systemic Screening for 22q11.2 Copy Number Variations in Hungarian Pediatric and Adult Patients With Congenital Heart Diseases Identified Rare Pathogenic Patterns in the Region

Congenital heart defects (CHD) are the most common developmental abnormalities, affecting approximately 0.9% of livebirths. Genetic factors, including copy number variations (CNVs), play an important role in their development. The most common CNVs are found on chromosome 22q11.2. The genomic instabi...

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Detalles Bibliográficos
Autores principales: Zodanu, Gloria Kafui Esi, Oszlánczi, Mónika, Havasi, Kálmán, Kalapos, Anita, Rácz, Gergely, Katona, Márta, Ujfalusi, Anikó, Nagy, Orsolya, Széll, Márta, Nagy, Dóra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8117090/
https://www.ncbi.nlm.nih.gov/pubmed/33995479
http://dx.doi.org/10.3389/fgene.2021.635480

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8117090/
https://www.ncbi.nlm.nih.gov/pubmed/33995479
http://dx.doi.org/10.3389/fgene.2021.635480

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