Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome
Author:
Janneke H.M. Schuurs-Hoeijmakers,Edwin C. Oh,Lisenka E.L.M. Vissers,Mariëlle E.M. Swinkels,Christian Gilissen,Michèl A. Willemsen,Maureen Holvoet,Marloes Steehouwer,Joris A. Veltman,Bert B.A. de Vries,Hans van Bokhoven,Arjan P.M. de Brouwer et al.
Publication:
The American Journal of Human Genetics
Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.