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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς: 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
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Molecular Vision 2013
Θέματα:
Research Article
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3816992/
https://ncbi.nlm.nih.gov/pubmed/24194637
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