Publication:

Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients (2008)

Author(s): Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B, Abdulla F, Abramowicz M, Amy S, Schafer I, Bankier A, White S, Barcina MG, Bartoshesky LE, Jenny K, Beemer FA, Benke P, Betz RC, Bianchini G, Garavelli L, Bigoni S, Bird L, Chibuk J, Masser-Frye D, Brunetti N, Scarcella A, Brunner HG, Burn J, Carmi R, Castellan C, Castelluccio P, Castle B, Chiong MA, Cutiongco EM, Collins F, Couchon E, Curry A, Pastore M, Curry C, Swenerton A, Treisman T, Dean J, Devriendt K, Matthijs G, Dunlap JW, Shashi V, Elcioglu N, Farndon P, Ferrero GB, Ferrier R, Foulds N, Friedman JM, Gal A, Orth U, Gardner M, Gerola O, Gillessen-Kaesbach G, Giuliano F, Turc-Carel C, Godde E, Graber V, Graham GE, Gurrieri F, Harbour L, Henderson A, Jones E, Heran H, Homfray T, Taylor R, Iwarsson E, Jensen P, Jezela-Stanek A, Joss S, Taylor G, Keeling SL, Klatt R, Teebi A, Klehr-Martinelli M, Kotzot D, Lees M, Loughlin S, Lhotta K, Macdonald F, Mari F, Renieri A, Marlin S, McGaughran J, McKenzie F, McLeod DR, Megarbane A, Mota CR, Mucke J, Tzschach A, Obersztyn E, Okhowat R, Shinzel A, Pfau R, Pober B, Raymond FL, Reich E, Reimschisel T, Robertson J, Roggenbuck J, Sabato A, Sanchez Del Pozo J, Schell-Apacik C, Schwaab E, Selicorni A, Sell S, Smithson S, Stray-Pedersen A, Tan T, Thiese H, Tol J, Toprak O, Trump D, Whittaker J, Williams D, Zelante L, Zoll B

      • Journal: Human Mutation
      • Volume: 29
      • Issue: 10
      • Pages: 1237-1246
      • Publisher: John Wiley & Sons, Inc.
      • Publication type: Article
      • Bibliographic status: Published
      Staff

      Professor Sir John Burn
      Professor of Clinical Genetics