Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

  1. Bramswig, N.C.
  2. Lüdecke, H.-J.
  3. Alanay, Y.
  4. Albrecht, B.
  5. Barthelmie, A.
  6. Boduroglu, K.
  7. Braunholz, D.
  8. Caliebe, A.
  9. Chrzanowska, K.H.
  10. Czeschik, J.C.
  11. Endele, S.
  12. Graf, E.
  13. Guillén-Navarro, E.
  14. Kiper, P.Ö.S.
  15. López-González, V.
  16. Parenti, I.
  17. Pozojevic, J.
  18. Utine, G.E.
  19. Wieland, T.
  20. Kaiser, F.J.
  21. Wollnik, B.
  22. Strom, T.M.
  23. Wieczorek, D.
Journal:
Human Genetics

ISSN: 1432-1203 0340-6717

Year of publication: 2015

Volume: 134

Issue: 6

Pages: 553-568

Type: Article

DOI: 10.1007/S00439-015-1535-8 GOOGLE SCHOLAR