Condition: Congenital diaphragmatic hernia


rs1060499548 in ABL1 gene and Congenital diaphragmatic hernia PMID 28288113 2017 Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.

rs1555628863 in GATA6 gene and Congenital diaphragmatic hernia PMID 24385578 2014 Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.

PMID 24385578 2014 In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot.

PMID 24385578 2014 In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect.

rs1563686762 in RAD21;UTP23 gene and Congenital diaphragmatic hernia PMID 30125677 2019 A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.