A new intellectual disability syndrome caused byCTNNB1haploinsufficiency

Author:

Dubruc Estelle1,Putoux Audrey12,Labalme Audrey1,Rougeot Christelle3,Sanlaville Damien12,Edery Patrick12

Affiliation:

1. Genetics Service, Hospices Civils de Lyon; Hôpital Femme-Mère-Enfant, and Eastern Biology and Pathology Centre; Bron Cedex France

2. Neuroscience Research Centre; Inserm U1028, UMR CNRS 5292, Claude Bernard University Lyon 1; Lyon France

3. Neuropediatric Department; Hopital Femme-Mère-Enfant; Bron Cedex France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference17 articles.

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2. Clinical utility of contemporary molecular cytogenetics;Bejjani;Ann Rev Genomics Hum Genet,2008

3. Inactivation of the beta-catenin gene by Wnt1-Cre-mediated deletion results in dramatic brain malformation and failure of craniofacial development;Brault;Development,2001

4. Regulation of cerebral cortical size by control of cell cycle exit in neural precursors;Chenn;Science,2002

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

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