Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center-Reference-Cited by-同舟云学术

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

Published:2013-03-27 Issue:1 Volume:1 Page:15-31
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Gerth-Kahlert Christina¹,Williamson Kathleen²,Ansari Morad²,Rainger Jacqueline K.²,Hingst Volker³,Zimmermann Theodor⁴,Tech Stefani¹,Guthoff Rudolf F.¹,van Heyningen Veronica²,FitzPatrick David R.²

Affiliation:

1. Department of Ophthalmology; University of Rostock; Germany

2. MRC Human Genetics Unit; MRC Institute of Genetics and Molecular Medicine at the University of Edinburgh; Western General Hospital; Edinburgh; EH4 2XU; United Kingdom

3. Department of Radiology; University of Rostock; Germany

4. Department of Pediatrics; University of Erlangen; Germany

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Reference53 articles.

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3. SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours;Alatzoglou;Hum. Mutat.,2011

4. Documentation of anomalies not previously described in Fryns syndrome;Arnold;Am. J. Med. Genet. A,2003

5. Multipotent cell lineages in early mouse development depend on SOX2 function;Avilion;Genes Dev.,2003

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