STUDY: Gene mutation and rescue in congenital diaphragmatic hernia

Study Description

Congenital Diaphragmatic Hernia (CDH) is a common and life-threatening malformation. The most common phenotype is left-sided... Show More

Study Accession Alternative Stable ID type
phs000485.v1.p1 dbGaP Probands; Mendelian; Family

Who controls access to this study

National Human Genome Research Institute
Access information:


Data provider(s)

  • Title Name Institute
    Principal Investigator Patricia Donahoe, MD Massachusetts General Hospital, Boston, MA, USA
    Funding Source U54 HG003067 National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA

Who archives the data?

The database of Genotypes and Phenotypes (dbGaP)