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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...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2021
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| 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 |