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Investigative Ophthalmology & Visual Science (1)

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aicardi syndrome (1)
corpus callosum agenesis (1)
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Genetics June 2015

A De Novo Mutation in TEAD1 Causes Non–X-Linked Aicardi Syndrome

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Isabelle Schrauwen; Szabolcs Szelinger; Ashley L. Siniard; Jason J. Corneveaux; Ahmet Kurdoglu; Ryan Richholt; Matt De Both; Ivana Malenica; Shanker Swaminathan; Sampathkumar Rangasamy; Neil Kulkarni; Saunder Bernes; Jeffrey Buchhalter; Keri Ramsey; David W. Craig; Vinodh Narayanan; Matthew J. Huentelman
TAGS: aicardi syndrome, de novo mutation, genes, mutation, rna, x-linked inheritance, family, x inactivation, gene expression profiling, exome
Invest. Ophthalmol. Vis. Sci.. 2015; 56(6):3896-3904. doi: https://doi.org/10.1167/iovs.14-16261

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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Copyright © 2015 Association for Research in Vision and Ophthalmology.

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