Work

Whole Exome Sequencing Reveals a Novel Mutation in CUL7 in a Patient with an Undiagnosed Growth Disorder

Year: 2012

Type: article

Study design: Case Report

Source: The Journal of Pediatrics

DOI: 10.1016/j.jpeds.2012.07.055

Authors: Andrew Dauber, Joan Stoler, Eliana Hechter, Jason Safer, Joel N. Hirschhorn

Institutions: Broad Institute, Boston Children's Hospital, Harvard University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: March of Dimes Foundation, Harvard University, Harvard Catalyst, National Institutes of Health, National Center for Research Resources, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: Harvard Clinical and Translational Science Center (UL1), G4399906055, Rare Genetic Variants as Novel Causes of Idopathic or Syndromic Short Stature, Child Health Research Career Development Award (CHRCDA) Program (K12)

OpenAlex ID: W2075003126

FWCI: 2.868

Cites: 15

Cited by: 35

Related to: 10