Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum

Title
Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum
Authors
Keywords
-
Journal
CLINICAL GENETICS
Volume 84, Issue 4, Pages 394-395
Publisher
Wiley
Online
2013-01-16
DOI
10.1111/cge.12088

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