A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed inWACmutations and strengthens the role ofWACin intellectual disability and behavior disorders-Reference-Cited by-同舟云学术

A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed inWACmutations and strengthens the role ofWACin intellectual disability and behavior disorders

Published:2016-04-27 Issue:7 Volume:170 Page:1912-1917
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Abdelhedi Fatma¹,El Khattabi Laila¹²,Essid Nouha³,Viot Geraldine²⁴,Letessier Dominique¹,Lebbar Aziza¹²,Dupont Jean-Michel¹²

Affiliation:

1. Cytogenetics Laboratory, APHP; Cochin Hospital; Paris France

2. Paris Descartes University; Faculty of Medicine; Paris France

3. Paediatric Neurology Unit, Department of Paediatric, Raymond Poincare Hospital, APHP; University of Versailles-St-Quentin; Versailles-St-Quentin France

4. Department of Gynecology-Obstetrics APHP; Cochin Hospital; Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference21 articles.

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2. Loss-of-function mutations in RAB18 cause warburg micro syndrome;Bem;Am J Hum Genet,2011

3. 2015 http://decipher.sanger.ac.uk/

4. Diagnostic exome sequencing in persons with severe intellectual disability;de Ligt;N Engl J Med,2012

5. WAC loss-of-function mutations cause a recognisable syndrome characterized by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome;DeSanto;J Med Genet,2015

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