Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population

Next-generation sequencing strategies have resulted in mutation detection rates of 21% to 61% in small cohorts of patients with microphthalmia, anophthalmia and coloboma (MAC), but despite progress in identifying novel causative genes, many patients remain without a genetic diagnosis. We studied a c...

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Xehetasun bibliografikoak
Argitaratua izan da:Clin Genet
Egile Nagusiak: Islam, Farrah, Htun, Stephanie, Lai, Li-Wen, Krall, Max, Poranki, Menitha, Martin, Pierre-Marie, Sobreira, Nara, Wohler, Elizabeth S., Yu, Jingwei, Moore, Anthony T., Slavotinek, Anne M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2020
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC8077035/
https://ncbi.nlm.nih.gov/pubmed/32799327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13830
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