Article
Genetics of diaphragmatic hernia.
European journal of human genetics : EJHG - 1 Dec 2021
Schreiner Yannick, Schaible Thomas, Rafat Neysan
Abstract excerpt
Congenital diaphragmatic hernia (CDH) is a life-threatening malformation characterised by failure of diaphragmatic development with lung hypoplasia and persistent pulmonary hypertension of the newborn (PPHN). The incidence is 1:2000 corresponding to 8% of all major congenital malformations. Morbidity and mortality in affected newborns are very high and at present, there is no precise prenatal or early postnatal...
Topics
- Genetic Testing
- Hernia, Diaphragmatic
- Humans
- Mutation
- Vitamin A