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Article

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

Clinical genetics - 1 Nov 2020

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

Abstract excerpt

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 cohort of 19 patients with MAC who were ascertained from a population with high rates of consanguinity. Using single...

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Identifiers

PMID: 32799327
DOI: 10.1111/cge.13830
PMCID: PMC8077035

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