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
Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Ophthalmology"
DOI: 10.1136/bjo-2022-321991
Abstract: Background/aims Microphthalmia, anophthalmia and coloboma (MAC) are clinically and genetically heterogenous rare developmental eye conditions, which contribute to a significant proportion of childhood blindness worldwide. Clear understanding of MAC aetiology and comorbidities is essential to… read more here.
Keywords: microphthalmia anophthalmia; patients microphthalmia; management; coloboma ... See more keywords