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

Clinical evaluation and mutation analysis was performed in 51 consecutive probands with severe eye malformations – anophthalmia and/or severe microphthalmia – seen in a single specialist ophthalmology center. The mutation analysis consisted of bidirectional sequencing of the coding regions of SOX2,...

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Bibliographische Detailangaben
Hauptverfasser: Gerth-Kahlert, Christina, Williamson, Kathleen, Ansari, Morad, Rainger, Jacqueline K, Hingst, Volker, Zimmermann, Theodor, Tech, Stefani, Guthoff, Rudolf F, van Heyningen, Veronica, FitzPatrick, David R
Format: Artigo
Sprache:Inglês
Veröffentlicht: Blackwell Publishing Ltd 2013
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3893155/
https://ncbi.nlm.nih.gov/pubmed/24498598
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.2
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