Ragge, Nicola K. ; Brown, Alison G. ; Poloschek, Charlotte M. ; Lorenz, Birgit ; Henderson, R. Alex ; Clarke, Michael P. ; Russell-Eggitt, Isabelle ; Fielder, Alistair ; Gerrelli, Dianne ; Martinez-Barbera, Juan Pedro 
; Ruddle, Piers ; Hurst, Jane ; Collin, J. Richard O. ; Salt, Alison ; Cooper, Simon T. ; Thompson, Pamela J. ; Sisodiya, Sanjay M. ; Williamson, Kathleen A. ; FitzPatrick, David R. ; Heyningen, Veronica van ; Hanson, Isabel M.
; Ruddle, Piers ; Hurst, Jane ; Collin, J. Richard O. ; Salt, Alison ; Cooper, Simon T. ; Thompson, Pamela J. ; Sisodiya, Sanjay M. ; Williamson, Kathleen A. ; FitzPatrick, David R. ; Heyningen, Veronica van ; Hanson, Isabel M. 
Zusammenfassung
Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci by mapping is therefore rarely feasible. Using a candidate-gene approach, we have identified heterozygous coding-region changes in the homeobox gene OTX2 in eight families with ocular malformations. ...
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