Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

  1. Puig-Hervás, M.T.
  2. Temtamy, S.
  3. Aglan, M.
  4. Valencia, M.
  5. Martínez-Glez, V.
  6. Ballesta-Martínez, M.J.
  7. López-González, V.
  8. Ashour, A.M.
  9. Amr, K.
  10. Pulido, V.
  11. Guillén-Navarro, E.
  12. Lapunzina, P.
  13. Caparrós-Martín, J.A.
  14. Ruiz-Perez, V.L.
Journal:
Human Mutation

ISSN: 1059-7794 1098-1004

Year of publication: 2012

Volume: 33

Issue: 10

Pages: 1444-1449

Type: Article

DOI: 10.1002/HUMU.22133 GOOGLE SCHOLAR

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