Mutations in ECEL1 cause distal arthrogryposis type 5D

  • Margaret J. McMillin
  • , Jennifer E. Below
  • , Kathryn M. Shively
  • , Anita E. Beck
  • , Heidi I. Gildersleeve
  • , Jason Pinner
  • , Gloria R. Gogola
  • , Jacqueline T. Hecht
  • , Dorothy K. Grange
  • , David J. Harris
  • , Dawn L. Earl
  • , Sujatha Jagadeesh
  • , Sarju G. Mehta
  • , Stephen P. Robertson
  • , James M. Swanson
  • , Elaine M. Faustman
  • , Heather C. Mefford
  • , Jay Shendure
  • , Deborah A. Nickerson
  • , Michael J. Bamshad

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70 Scopus citations

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology