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CACNA1C haploinsufficiency accounts for the common features of interstitial 12p13.33 deletion carriers

  • Published:2020-04 Issue:4 Volume:63 Page:103843
  • ISSN:1769-7212
  • Container-title:European Journal of Medical Genetics
  • language:en
  • Short-container-title:European Journal of Medical Genetics

Author:

Mio Catia,Passon Nadia,Baldan Federica,Bregant Elisa,Monaco Elisabetta,Mancini Loretta,Demori Eliana,Damante Giuseppe

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference27 articles.

1. 1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay;Abdelmoity;Eur. J. Med. Genet.,2011

2. A familial cryptic subtelomeric deletion 12p with variable phenotypic effect;Baker;Clin. Genet.,2002

3. Genomic deletion involving the IMMP2L gene in two cases of autism spectrum disorder;Baldan;CGR,2018

4. calcium channel mutations in cardiac arrhythmia syndromes;Betzenhauser;Curr. Mol. Pharmacol.,2015

5. An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation;Blancard;Sci. Rep.,2018
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