Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

Author:

Kharbanda MiraORCID,Pilz Daniela T.,Tomkins Susan,Chandler Kate,Saggar Anand,Fryer Alan,McKay Victoria,Louro Pedro,Smith Jill Clayton,Burn JohnORCID,Kini Usha,De Burca Anna,FitzPatrick David R.,Kinning Esther

Funder

Health Innovation Challenge Fund

Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute

Cambridge South REC

Republic of Ireland REC

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference9 articles.

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

3. Deletion of CTNNB1 in inhibitory circuitry contributes to autism-associated behavioral defects;Dong;Hum. Mol. Genet.,2016

4. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency;Dubruc;Am. J. Med. Genet. A,2014

5. Beta-Catenin controls hair follicle morphogenesis and stem cell differentiation in the skin;Huelsken;Cell,2001

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