Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3

We report on a 29-year-old Greek-Cypriot female with a de novo 6.3 Mb distal 10q26.2q26.3 deletion. She had a very mild neurocognitive phenotype with near normal development and intellect. In addition, she had certain distinctive features and postural orthostatic tachycardia. We review the relevant...

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Principais autores:	George A. Tanteles, Elpiniki Nikolaou, Yiolanda Christou, Angelos Alexandrou, Paola Evangelidou, Violetta Christophidou-Anastasiadou, Carolina Sismani, Savvas S. Papacostas
格式:	Artigo
語言:	Inglês
出版:	Wiley 2015-01-01
叢編:	Case Reports in Genetics
在線閱讀:	http://dx.doi.org/10.1155/2015/242891
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