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Article

Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report.

BMC ophthalmology - 17 Aug 2020

Valencia-Peña Claudia, Jiménez-Sanchez Paula, Saldarriaga Wilmar, Payán-Gómez César

Abstract excerpt

BACKGROUND: 22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity. Those affected may have intellectual disabilities, dysmorphic facial features, and ocular alterations such as ptosis, hypertelorism, nystagmus, and chorioretinal coloboma. The prevalence of this syndrome is unknown, there are only approximately 100 cases reported. However Dup22q11.2 should have a similar...

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Identifiers

PMID: 32807111
DOI: 10.1186/s12886-020-01603-w
PMCID: PMC7433184

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