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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Dades bibliogràfiques
Publicat a:Case Rep Genet
Autors principals: Tanteles, George A., Nikolaou, Elpiniki, Christou, Yiolanda, Alexandrou, Angelos, Evangelidou, Paola, Christophidou-Anastasiadou, Violetta, Sismani, Carolina, Papacostas, Savvas S.
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2015
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4532806/
https://ncbi.nlm.nih.gov/pubmed/26294985
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2015/242891
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