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

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

Abstract 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 o...

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Bibliographic Details
Main Authors: Claudia Valencia-Peña, Paula Jiménez-Sanchez, Wilmar Saldarriaga, César Payán-Gómez
Format: Article
Language:English
Published: BMC 2020-08-01
Series:BMC Ophthalmology
Subjects:
Coloboma of optic nerve
Duplication 22q11 q13
Bioinformatics
Array comparative genomic hybridization
Case report
Online Access:http://link.springer.com/article/10.1186/s12886-020-01603-w

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http://link.springer.com/article/10.1186/s12886-020-01603-w

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