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P08.4 Large interstitial deletion of the short arm of chromosome 3 (3p12.3-p14.1): report of MITF haploinsufficiency non resulting in Waardenburg 2a phenotype

✍ Scribed by A. Monier; C. Vilain; B. Grisart; H. Dessy; A. Aeby; B. Dan


Book ID
114360467
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
36 KB
Volume
15
Category
Article
ISSN
1090-3798

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## Abstract Greig cephalopolysyndactyly (GCPS; OMIM 175700) is an autosomal dominant condition caused by mutations of the gene __GLI3__, located on 7p13. To date, several cases of deletions and/or translocations involving this locus have been reported in patients with GCPS. __GLI3__ is a transcript