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PAX3 and Waardenburg Syndrome Type 1 

PAX3 and Waardenburg Syndrome Type 1
Chapter:
PAX3 and Waardenburg Syndrome Type 1
Author(s):

Kirby A. Ziegler

, Gareth N. Corry

, and D. Alan Underhill

DOI:
10.1093/med/9780199934522.003.0111
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date: 08 March 2021

The human PAX genes encode a group of sequence-specific transcription factors that play important roles in development and cell differentiation (Chi and Epstein, 2002; Underhill, 2000). PAX proteins are characterized by a 128–amino acid DNA-binding paired domain (PD) and are highly conserved in metazoans (Underhill, 2012). Four of nine mammalian PAX proteins also contain a homeodomain (HD), and eight are directly implicated in congenital syndromes or cancer in humans.

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