Alu-mediated deletion of SOX10 regulatory elements in Waardenburg syndrome type 4

Waardenburg syndrome type 4 (WS4) is a rare neural crest disorder defined by the combination of Waardenburg syndrome (sensorineural hearing loss and pigmentation defects) and Hirschsprung disease (intestinal aganglionosis). Three genes are known to be involved in this syndrome, that is, EDN3 (endoth...

Full description

Saved in:
Bibliographic Details
Main Authors: Bondurand, Nadége, Fouquet, Virginie, Baral, Viviane, Lecerf, Laure, Loundon, Natalie, Goossens, Michel, Duriez, Benedicte, Labrune, Philippe, Pingault, Veronique
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2012
Subjects:
Short Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3421117/
https://ncbi.nlm.nih.gov/pubmed/22378281
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.29
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items