A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

BACKGROUND: The recurrent ∼600 kb 16p11.2 BP4-BP5 deletion is among the most frequent known genetic aetiologies of autism spectrum disorder (ASD) and related neurodevelopmental disorders. OBJECTIVE: To define the medical, neuropsychological, and behavioural phenotypes in carriers of this deletion. M...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Zufferey, Flore, Sherr, Elliott H, Beckmann, Noam D, Hanson, Ellen, Maillard, Anne M, Hippolyte, Loyse, Macé, Aurélien, Ferrari, Carina, Kutalik, Zoltán, Andrieux, Joris, Aylward, Elizabeth, Barker, Mandy, Bernier, Raphael, Bouquillon, Sonia, Conus, Philippe, Delobel, Bruno, Faucett, W Andrew, Goin-Kochel, Robin P, Grant, Ellen, Harewood, Louise, Hunter, Jill V, Lebon, Sébastien, Ledbetter, David H, Martin, Christa Lese, Männik, Katrin, Martinet, Danielle, Mukherjee, Pratik, Ramocki, Melissa B, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Spiro, John E, Reymond, Alexandre, Beckmann, Jacques S, Chung, Wendy K, Jacquemont, Sébastien
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2012
Assuntos:
Copy-Number Variation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3494011/
https://ncbi.nlm.nih.gov/pubmed/23054248
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101203
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados