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Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability

✍ Scribed by Oehl-Jaschkowitz, Barbara; Vanakker, Olivier M.; De Paepe, Anne; Menten, Björn; Martin, Thomas; Weber, Georg; Christmann, Alexander; Krier, Romain; Scheid, Simone; McNerlan, Susan E.; McKee, Shane; Tzschach, Andreas


Book ID
126909073
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
819 KB
Volume
164
Category
Article
ISSN
1552-4825

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Interstitial deletion of 14q24.3-q32.2 i
✍ Sultan Cingöz; Iben Bache; Lise Bjerglund; Hans-Hilger Ropers; Niels Tommerup; H 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB 👁 2 views

## Abstract Distal interstitial deletions of chromosome 14 involving the 14q24‐q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3‐q32.2 in a m