{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["40(1)"],"submitter":["Nord P"],"funding":["Karolinska Institute"],"pubmed_abstract":["<h4>Purpose</h4>Congenital diaphragmatic hernia (CDH) and cleft lip and/or palate (CL/P) are inborn closure defects. Genetic factors in and outcomes for patients with both anomalies (CDH+CL/P) remain unclear. We aimed to investigate associated genetic aberrations, prevalence of, and outcomes for, CDH+CL/P.<h4>Methods</h4>Data from Congenital Diaphragmatic Hernia Study Group (CDHSG) registry were collected. CL/P prevalence in CDH patients was determined. Genetic abnormalities and additional malformations in CDH+CL/P were explored. Patient characteristics and outcomes were compared between CDH+CL/P and isolated CDH (CDH-) using Fisher's Exact Test for categorical, and t-test or Mann-Whitney U-test for continuous, data. p < 0.05 was considered statistically significant.<h4>Results</h4>Genetic"],"journal":["Pediatric surgery international"],"pagination":["259"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11445286"],"repository":["biostudies-literature"],"pubmed_title":["Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology."],"pmcid":["PMC11445286"],"pubmed_authors":["Congenital Diaphragmatic Hernia Study Group","Burgos CM","Peterson P","Nord P","Harting MT","Ebanks AH","Iwarsson E"],"additional_accession":[]},"is_claimable":false,"name":"Congenital diaphragmatic hernia and cleft lip and palate: looking for a common genetic etiology.","description":"<h4>Purpose</h4>Congenital diaphragmatic hernia (CDH) and cleft lip and/or palate (CL/P) are inborn closure defects. Genetic factors in and outcomes for patients with both anomalies (CDH+CL/P) remain unclear. We aimed to investigate associated genetic aberrations, prevalence of, and outcomes for, CDH+CL/P.<h4>Methods</h4>Data from Congenital Diaphragmatic Hernia Study Group (CDHSG) registry were collected. CL/P prevalence in CDH patients was determined. Genetic abnormalities and additional malformations in CDH+CL/P were explored. Patient characteristics and outcomes were compared between CDH+CL/P and isolated CDH (CDH-) using Fisher's Exact Test for categorical, and t-test or Mann-Whitney U-test for continuous, data. p < 0.05 was considered statistically significant.<h4>Results</h4>Genetic","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Oct","modification":"2026-06-01T09:12:35.245Z","creation":"2025-04-06T16:10:05.802Z"},"accession":"S-EPMC11445286","cross_references":{"pubmed":["39352580"],"doi":["10.1007/s00383-024-05843-5"]}}