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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Tanteles, George A., Nikolaou, Elpiniki, Christou, Yiolanda, Alexandrou, Angelos, Evangelidou, Paola, Christophidou-Anastasiadou, Violetta, Sismani, Carolina, Papacostas, Savvas S.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2015
Assuntos:
Case Report
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados