Congenital heart defects associated with pathogenic variants in <scp> <i>WAC</i> </scp> gene: Expanding the phenotypic and genotypic spectrum of <scp>DeSanto–Shinawi</scp> syndrome-Reference-Cited by-同舟云学术

Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto–Shinawi syndrome

Published:2022-01-08 Issue:4 Volume:188 Page:1311-1316
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Quental Rita¹^ORCID,Gonçalves Daniel²,Rodrigues Esmeralda³,Serrano Gonçalves Edite⁴,Oliveira Jorge⁵⁶,Parente Freixo João⁵⁶,Leão Miguel¹

Affiliation:

1. Department of Medical Genetics Centro Hospitalar Universitário de São João (CHUSJ) Porto Portugal

2. Neurodevelopment Unit, Department of Pediatrics CHUSJ Porto Portugal

3. Metabolic Diseases Unit, Department of Pediatrics CHUSJ Porto Portugal

4. Department of Pediatric Cardiology CHUSJ Porto Portugal

5. CGPP ‐ Centro de Genética Preditiva e Preventiva IBMC ‐ Instituto de Biologia Molecular e Celular, Universidade do Porto Porto Portugal

6. i3S ‐ Instituto de Investigação e Inovação em Saúde Universidade do Porto Porto Portugal

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62636

Reference23 articles.

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

2. Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants

3. A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation

4. The TGF-β pseudoreceptor geneBambi is dispensable for mouse embryonic development and postnatal survival

5. Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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