Roessler, Erich ; El-Jaick, Kenia B. 
; Dubourg, Christèle ; Vélez, Jorge I. ; Solomon, Benjamin D. ; Pineda-Álvarez, Daniel E. ; Lacbawan, Felicitas ; Zhou, Nan ; Ouspenskaia, Maia ; Paulussen, Aimée ; Smeets, Hubert J. ; Hehr, Ute ; Bendavid, Claude ; Bale, Sherri ; Odent, Sylvie ; David, Véronique ; Muenke, Maximilian
; Dubourg, Christèle ; Vélez, Jorge I. ; Solomon, Benjamin D. ; Pineda-Álvarez, Daniel E. ; Lacbawan, Felicitas ; Zhou, Nan ; Ouspenskaia, Maia ; Paulussen, Aimée ; Smeets, Hubert J. ; Hehr, Ute ; Bendavid, Claude ; Bale, Sherri ; Odent, Sylvie ; David, Véronique ; Muenke, Maximilian 
Zusammenfassung
Mutations within either the SHH gene or its related pathway components are the most common, and best understood, pathogenetic changes observed in holoprosencephaly patients; this fact is consistent with the essential functions of this gene during forebrain development and patterning. Here we summarize the nature and types of deleterious sequence alterations among over one hundred distinct ...
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