A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing

Title
A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing
Authors
Keywords
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Journal
JOURNAL OF MEDICAL GENETICS
Volume 48, Issue 9, Pages 593-596
Publisher
BMJ
Online
2011-08-24
DOI
10.1136/jmedgenet-2011-100288

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