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   Articles with "microphthalmia anophthalmia" as a keyword



Panel‐based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns

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recommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.329

Abstract: Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of MA… read more here.

Keywords: exome sequencing; based whole; microphthalmia anophthalmia; whole exome ... See more keywords
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Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population

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recommendations! Published in 2020 at "Clinical Genetics"

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
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Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma

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recommendations! 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
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Treatment strategies and long-term outcomes in patients with congenital microphthalmia–anophthalmia with cyst

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recommendations! Published in 2022 at "British Journal of Ophthalmology"

DOI: 10.1136/bjophthalmol-2020-318089

Abstract: Background/Aims Microphthalmia and anophthalmia are rare conditions, which represent ocular maldevelopment; both may be associated with orbital cysts. Current literature recommends retention to stimulate orbital growth during socket rehabilitation but does not illustrate their potential… read more here.

Keywords: long term; microphthalmia anophthalmia; cyst; term outcomes ... See more keywords
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Prenatal diagnosis and implications of microphthalmia and anophthalmia with a review of current ultrasound guidelines: two case reports

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recommendations! Published in 2018 at "Journal of Medical Case Reports"

DOI: 10.1186/s13256-018-1746-4

Abstract: BackgroundMicrophthalmia and anophthalmia are rare congenital fetal abnormalities. The combined incidence is estimated at 1 in 10,000 births. These two conditions arise from complex and incompletely understood genetic and/or environmental causes. Prenatal diagnosis is neither… read more here.

Keywords: medicine; diagnosis; microphthalmia anophthalmia; case ... See more keywords