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Cannata G, Caporilli C, Grassi F, et al. Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics. Int J Mol Sci. 2021;22(12)doi: 10.3390/ijms22126353.
Cannata, G., Caporilli, C., Grassi, F., Perrone, S., & Esposito, S. (2021). Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics. International journal of molecular sciences, 22(12), . https://doi.org/10.3390/ijms22126353
Cannata, Giulia, et al. "Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics." International journal of molecular sciences vol. 22,12 (2021). doi: https://doi.org/10.3390/ijms22126353
Cannata G, Caporilli C, Grassi F, Perrone S, Esposito S. Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics. Int J Mol Sci. 2021 Jun 14;22(12). doi: 10.3390/ijms22126353. PMID: 34198563; PMCID: PMC8231903.
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Int J Mol Sci. 2021 Jun 14;22(12). doi: 10.3390/ijms22126353.

Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics.

International journal of molecular sciences

Giulia Cannata, Chiara Caporilli, Federica Grassi, Serafina Perrone, Susanna Esposito

Affiliations

  1. Pediatric Clinic, Pietro Barilla Children's Hospital, University of Parma, Via Gramsci 14, 43126 Parma, Italy.
  2. Neonatology Unit, Pietro Barilla Children's Hospital, Department of Medicine and Surgery, University of Parma, 43126 Parma, Italy.

PMID: 34198563 PMCID: PMC8231903 DOI: 10.3390/ijms22126353

Abstract

Congenital diaphragmatic hernia (CDH) is a relatively common major life-threatening birth defect that results in significant mortality and morbidity depending primarily on lung hypoplasia, persistent pulmonary hypertension, and cardiac dysfunction. Despite its clinical relevance, CDH multifactorial etiology is still not completely understood. We reviewed current knowledge on normal diaphragm development and summarized genetic mutations and related pathways as well as cellular mechanisms involved in CDH. Our literature analysis showed that the discovery of harmful

Keywords: birth defects; congenital diaphragmatic hernia; diaphragm embryology; genetics; whole exome sequencing

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