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8q21.11 Microdeletion in Two Patients with Syndromic Peters Anomaly

Peters anomaly is a form of anterior segment dysgenesis characterized by central ocular opacity and corneo-lenticular adhesions. Isolated and syndromic Peters anomaly can be observed and demonstrate significant genetic heterogeneity. We report the identification of overlapping 8q21.11 deletions in t...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Happ, Hannah, Schilter, Kala F., Weh, Eric, Reis, Linda M., Semina, Elena V.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5119633/
https://ncbi.nlm.nih.gov/pubmed/27378168
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37840
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