Ten‐year follow‐up of <scp>Nicolaides–Baraitser</scp> syndrome with a de novo mutation and analysis of 58 gene loci of <scp>SMARCA2</scp> ‐associated <scp>NCBRS</scp>-Reference-Cited by-同舟云学术

Ten‐year follow‐up of Nicolaides–Baraitser syndrome with a de novo mutation and analysis of 58 gene loci of SMARCA2 ‐associated NCBRS

Published:2022-07-10 Issue:9 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Zhang Xilian¹²,Chen Hanjiang¹²,Song Ying³,Chen Zhaoyuan³,Liu Xuan¹²,Rong Ping¹²,Ma Rong¹²^ORCID

Affiliation:

1. Department of Pediatrics First Teaching Hospital of Tianjin University of Traditional Chinese Medicine Tianjin China

2. National Clinical Research Center for Chinese Medicine Acupuncture and Moxibustion Tianjin China

3. Graduate College of Tianjin University of Traditional Chinese Medicine Tianjin China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2009

Reference16 articles.

1. BAFopathies' DNA methylation epi‐signatures demonstrate diagnostic utility and functional continuum of Coffin–Siris and Nicolaides–Baraitser syndromes;Aref‐Eshghi E.;Nature Communications,2018

2. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

3. The evolving features of Nicolaides–Baraitser syndrome – a clinical report of a 20‐year follow‐up

4. Heterozygous Mutations in SMARCA2 Reprogram the Enhancer Landscape by Global Retargeting of SMARCA4

5. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes

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