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

Zufferey, Flore; H Sherr, Elliott; D Beckmann, Noam; Hanson, Ellen; M Maillard, Anne; Hippolyte, Loyse; Macé, Aurélien; Ferrari, Carina; Kutalik, Zoltán; Andrieux, Joris; Aylward, Elizabeth; Barker, Mandy; Bernier, Raphael; Bouquillon, Sonia; Conus, Philippe; Delobel, Bruno; Andrew Faucett, W; P Goin-Kochel, Robin; Grant, Ellen; Harewood, Louise; V Hunter, Jill; Lebon, Sébastien; H Ledbetter, David; Lese Martin, Christa; Männik, Katrin; Martinet, Danielle; Mukherjee, Pratik; B Ramocki, Melissa; J Spence, Sarah; J Steinman, Kyle; Tjernagel, Jennifer; E Spiro, John; Reymond, Alexandre; S Beckmann, Jacques; K Chung, Wendy; Jacquemont, Sébastien; VIP Consortium, Simons; European Consortium, 16p11.2

doi:10.1136/jmedgenet-2012-101203

Public

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

Shared by NobleBlocks on Oct 1, 2012 • 12:00 AM UTC

Authors:

Flore Zufferey

Elliott H Sherr

Noam D Beckmann

Abstract

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...

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