Phenotypic spectrum associated with de novo mutations in QRICH1 gene-Reference-Cited by-同舟云学术

Phenotypic spectrum associated with de novo mutations in QRICH1 gene

Published:2017-12-21 Issue:2 Volume:93 Page:286-292
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ververi A.¹^ORCID,Splitt M.²,Dean J. C. S.³,Brady A. F.¹,

Affiliation:

1. North West Thames Regional Genetics Service; London North West Healthcare NHS Trust; Harrow UK

2. Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Institute of Human Genetics; International Centre for Life; Newcastle upon Tyne UK

3. Department of Medical Genetics; Aberdeen Royal Infirmary; Aberdeen UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13096/fullpdf

Reference21 articles.

1. De novo mutations in human genetic disease;Veltman;Nat Rev Genet,2012

2. Ensembl;Aken;Nucleic Acids Res,2017

3. Prevalence and architecture of de novo mutations in developmental disorders;McRae;Nature,2017

4. Synaptic, transcriptional and chromatin genes disrupted in autism;De Rubeis;Nature,2014

5. Analysis of protein-coding genetic variation in 60,706 humans;Lek;Nature,2016

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4. A novel variant in the QRICH1 gene was identified in a patient with severe developmental delay;Molecular Genetics & Genomic Medicine;2023-06-18

5. Mother and Daughter with Short Stature, Microcephaly, Mild Dysmorphic Features, and Learning Disabilities Due to Ververi-Brady Syndrome Associated with a New Variant of the QRICH1 Gene;American Journal of Case Reports;2023-04-14