The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormally small, and typically associated with extreme hyperopia. We recruited 40 individuals from 13 kindreds with nanophthalmos or posterior microphthalmos, with 12 probands subjected to exome sequencing. N...

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Detalhes bibliográficos
Publicado no:Clin Genet
Main Authors: Siggs, Owen M, Awadalla, Mona S, Souzeau, Emmanuelle, Staffieri, Sandra E, Kearns, Lisa S, Laurie, Kate, Kuot, Abraham, Qassim, Ayub, Edwards, Thomas L, Coote, Michael A, Mancel, Erica, Walland, Mark J, Dondey, Joanne, Galanopoulous, Anna, Casson, Robert J, Mills, Richard A, MacArthur, Daniel G, Ruddle, Jonathan B, Burdon, Kathryn P, Craig, Jamie E
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7811993/
https://ncbi.nlm.nih.gov/pubmed/32052405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13722
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