Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population
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DOI: 10.1111/cge.13830
Abstract: 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… read more here.
Keywords: exome sequencing; patients microphthalmia; microphthalmia anophthalmia; mac ... See more keywords