A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

Published 2013 View Full Article

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Title
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
Authors
Keywords
HEK293T Cell, Dual Luciferase Reporter Assay, Mild Intellectual Disability, Winged Scapula, PAX1 Mutation
Journal
HUMAN GENETICS
Volume 132, Issue 11, Pages 1311-1320
Publisher
Springer Nature
Online
2013-07-12
DOI
10.1007/s00439-013-1337-9

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