A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1

PURPOSE: We have previously described two families with unique phenotypes involving foveal hypoplasia. The first family (F1) presented with foveal hypoplasia and anterior segment dysgenesis, and the second family (F2) presented with foveal hypoplasia and chiasmal misrouting in the absence of albinis...

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Bibliografische gegevens
Hoofdauteurs: Al-Araimi, Musallam, Pal, Bishwanath, Poulter, James A., van Genderen, Maria M., Carr, Ian, Cudrnak, Tomas, Brown, Lawrence, Sheridan, Eamonn, Mohamed, Moin D., Bradbury, John, Ali, Manir, Inglehearn, Chris F., Toomes, Carmel
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Molecular Vision 2013
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3816992/
https://ncbi.nlm.nih.gov/pubmed/24194637
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