Heterozygous SOX9 Mutations Allowing for Residual DNA-binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia

Title
Heterozygous SOX9 Mutations Allowing for Residual DNA-binding and Transcriptional Activation Lead to the Acampomelic Variant of Campomelic Dysplasia
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 31, Issue 6, Pages E1436-E1444
Publisher
Wiley
Online
2010-05-01
DOI
10.1002/humu.21238

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