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A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child with feeding problems

✍ Scribed by Henedina Antunes; Jean-Pierre Gonçalves; Esmeralda Silva; Natália Teles


Book ID
116508877
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
445 KB
Volume
503
Category
Article
ISSN
0378-1119

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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