Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

Molecular Genetics and Genomic Medicine

Volumn 1, Issue 1, 2013, Pages 15-31

  Gerth Kahlert, Christina ^a   Williamson, Kathleen ^b   Ansari, Morad ^b   Rainger, Jacqueline K ^b   Hingst, Volker ^a   Zimmermann, Theodor ^c   Tech, Stefani ^a   Guthoff, Rudolf F ^a   Heyningen, Veronica van ^b   Fitzpatrick, David R ^b  

^a UNIVERSITY OF ROSTOCK   (Germany)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

Author keywords

Anophthalmia; Array CGH; BMP4; Coloboma; De novo mutations; FOXE3; Gene deletion; Haploinsufficiency; Microphthalmia; Missense mutations; OTX2; PAX6; RAX; SMOC1; SOX2; STRA6; Transcription factors

Indexed keywords

EID: 84885855832     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.2     Document Type: Article

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