Lacbawan, F ; Solomon, B D ; Roessler, E ; El-Jaick, K 
; Domene, S ; Velez, J I ; Zhou, N ; Hadley, D ; Balog, J Z ; Long, R ; Fryer, A ; Smith, W ; Omar, S ; McLean, S D ; Clarkson, K ; Lichty, A ; Clegg, N J ; Delgado, M R ; Levey, E ; Stashinko, E ; Potocki, L ; VanAllen, M I ; Clayton-Smith, J ; Donnai, D ; Bianchi, D W ; Juliusson, P B ; Njolstad, P R ; Brunner, H G ; Carey, J C ; Hehr, U ; Musebeck, J ; Wieacker, P F ; Postra, A ; Hennekam, R C M ; van den Boogaard, M-J H ; van Haeringen, A ; Paulussen, A ; Herbergs, J ; Schrander-Stumpel, C T R M ; Janecke, A R ; Chitayat, D ; Hahn, J ; McDonald-McGinn, D M ; Zackai, E H ; Dobyns, W B ; Muenke, M
; Domene, S ; Velez, J I ; Zhou, N ; Hadley, D ; Balog, J Z ; Long, R ; Fryer, A ; Smith, W ; Omar, S ; McLean, S D ; Clarkson, K ; Lichty, A ; Clegg, N J ; Delgado, M R ; Levey, E ; Stashinko, E ; Potocki, L ; VanAllen, M I ; Clayton-Smith, J ; Donnai, D ; Bianchi, D W ; Juliusson, P B ; Njolstad, P R ; Brunner, H G ; Carey, J C ; Hehr, U ; Musebeck, J ; Wieacker, P F ; Postra, A ; Hennekam, R C M ; van den Boogaard, M-J H ; van Haeringen, A ; Paulussen, A ; Herbergs, J ; Schrander-Stumpel, C T R M ; Janecke, A R ; Chitayat, D ; Hahn, J ; McDonald-McGinn, D M ; Zackai, E H ; Dobyns, W B ; Muenke, M 
Zusammenfassung
Background: Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain. There are several important HPE mutational target genes, including the transcription factor SIX3, which encodes an early regulator of Shh, Wnt, Bmp and Nodal signalling expressed in the developing forebrain and eyes of all vertebrates. Objective: To characterise genetic and clinical findings in ...
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