The Role of De Novo Variants in Patients with Congenital Diaphragmatic Hernia

The genetic etiology of congenital diaphragmatic hernia (CDH), a common and severe birth defect, is still incompletely understood. Chromosomal aneuploidies, copy number variations (CNVs), and variants in a large panel of CDH-associated genes, both de novo and inherited, have been described. Due to i...

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Detalles Bibliográficos
Autores principales: Bendixen, Charlotte, Reutter, Heiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466043/
https://www.ncbi.nlm.nih.gov/pubmed/34573387
http://dx.doi.org/10.3390/genes12091405

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8466043/
https://www.ncbi.nlm.nih.gov/pubmed/34573387
http://dx.doi.org/10.3390/genes12091405

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