Clinical and molecular characterization of five new individuals with <scp> <i>WAC</i> </scp> ‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant-Reference-Cited by-同舟云学术

Clinical and molecular characterization of five new individuals with WAC ‐related intellectual disability: Evidence of pathogenicity for a novel splicing variant

Published:2022-01-12 Issue:5 Volume:188 Page:1396-1406
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:

Morales Jose Andres¹^ORCID,Valenzuela Irene²³^ORCID,Cuscó Ivon²³,Cogné Benjamin⁴⁵,Isidor Bertrand⁴⁵,Matalon Dena R.¹^ORCID,Gomez‐Ospina Natalia¹

Affiliation:

1. Department of Pediatrics, Medical Genetics Division Stanford University Stanford California USA

2. Department of Clinical and Molecular Genetics University Hospital Vall d'Hebron Barcelona Spain

3. Medicine Genetics Group Valle Hebron Research Institute Barcelona Spain

4. Service de Génétique Médicale, CHU Nantes Nantes France

5. Université de Nantes, CNRS, INSERM, l'institut du thorax Nantes France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62648

Reference22 articles.

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

2. The phenomenal epigenome in neurodevelopmental disorders

3. WAC Regulates mTOR Activity by Acting as an Adaptor for the TTT and Pontin/Reptin Complexes

4. WACloss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

5. GnomAD: Genome Aggregation Database. (2020).https://gnomad.broadinstitute.org/

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