The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF‐opathy phenotype-Reference-Cited by-同舟云学术

The p.Arg377Trp variant in ACTL6A underlines a recognizable BAF‐opathy phenotype

Published:2020-01-29 Issue:4 Volume:97 Page:672-674
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Pascolini Giulia¹^ORCID,Agolini Emanuele²^ORCID,Novelli Antonio²,Majore Silvia¹,Grammatico Paola¹

Affiliation:

1. Medical Genetics Laboratory, Clinical Genetics Division, Department of Molecular MedicineSapienza University, San Camillo‐Forlanini Hospital Rome Italy

2. Laboratory of Medical Genetics, Department of LaboratoriesBambino Gesù Pediatric Hospital, IRCCS Rome Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13682

Reference3 articles.

1. Heterozygous variants in ACTL6A , encoding a component of the BAF complex, are associated with intellectual disability

2. Is this the Coffin-Siris syndrome or the BOD syndrome?

3. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

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2. Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders;Nature Genetics;2023-07-27

3. Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease–associated loci for BAFopathies;Genetics in Medicine;2022-02

4. Case Report: BAF-Opathies/SSRIDDs Due to a de novo ACTL6A Variant, Previously Considered to Be Heart-Hand Syndrome;Frontiers in Cardiovascular Medicine;2021-08-13