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Article

Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.

Ophthalmic genetics - 1 Dec 2017

Somashekar Puneeth H, Shukla Anju, Girisha Katta M

Abstract excerpt

BACKGROUND: Anophthalmia/microphthalmia/coloboma (MAC) spectrum encompasses the most severe malformations of the eye. Together, they have an incidence of 2 in 10,000 births and can be unilateral or bilateral. These disorders are genetically heterogeneous. MATERIALS AND METHODS: We ascertained a large three-generation family with multiple members showing variable phenotypes of syndromic microphthalmia. Exome...

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Identifiers

PMID: 28388256
DOI: 10.1080/13816810.2017.1301967

Genes

OTX2

Variants

Provenance

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