Characterization of a 8q21.11 Microdeletion Syndrome Associated with Intellectual Disability and a Recognizable Phenotype

We report eight unrelated individuals with intellectual disability and overlapping submicroscopic deletions of 8q21.11 (0.66–13.55 Mb in size). The deletion was familial in one and simplex in seven individuals. The phenotype was remarkably similar and consisted of a round face with full cheeks, a hi...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Palomares, María, Delicado, Alicia, Mansilla, Elena, de Torres, María Luisa, Vallespín, Elena, Fernandez, Luis, Martinez-Glez, Victor, García-Miñaur, Sixto, Nevado, Julián, Simarro, Fernando Santos, Ruiz-Perez, Victor L., Lynch, Sally Ann, Sharkey, Freddie H., Thuresson, Ann-Charlotte, Annerén, Göran, Belligni, Elga F., Martínez-Fernández, María Luisa, Bermejo, Eva, Nowakowska, Beata, Kutkowska-Kazmierczak, Anna, Bocian, Ewa, Obersztyn, Ewa, Martínez-Frías, María Luisa, Hennekam, Raoul C.M., Lapunzina, Pablo
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2011
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3155189/
https://ncbi.nlm.nih.gov/pubmed/21802062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.06.012
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados