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2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene

✍ Scribed by Caroline Rooryck; Marianne Stef; Ingrid Burgelin; Delphine Simon; Noui Souakri; Jean-Benoît Thambo; Jean-François Chateil; Didier Lacombe; Benoît Arveiler

Book ID: 116433218
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 558 KB
Volume: 52
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2009.08.005

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## Abstract Using an Affymetrix GeneChip® Human Mapping 100K Set to study a patient with a late‐presenting, right‐sided diaphragmatic hernia and microphthalmia, we found a maternally inherited deletion that was 2.7 Mb in size at chromosome 18q22.1. Mapping of this deletion using fluorescence in sit