A case of Ververi‐Brady syndrome due to QRICH1 loss of function and the literature review-Reference-Cited by-同舟云学术

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A case of Ververi‐Brady syndrome due to QRICH1 loss of function and the literature review

Published:2021-03-18 Issue:6 Volume:185 Page:1913-1917
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Baruch Yoav¹^ORCID,Horn‐Saban Shirley²,Plotsky Yoram²,Bercovich Dani²³,Gershoni‐Baruch Ruth²

Affiliation:

1. Lis Maternity and Women's Hospital Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University Tel Aviv Israel

2. GGA – Galil Genetic Analysis Ltd Kazerin Israel

3. Department of Biotechnology Tel‐Hai Academic College Qiryat Shemona Israel

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62184

Reference7 articles.

1. Synaptic, transcriptional and chromatin genes disrupted in autism

2. QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum

3. Crypton transposons: identification of new diverse families and ancient domestication events

4. QRICH1 mutations cause a chondrodysplasia with developmental delay

5. Exome Pool-Seq in neurodevelopmental disorders

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria;JAMA Neurology;2023-09-01

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

3. 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

4. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder;Human Mutation;2021-12-11

5. The Pancreatic ß-cell Response to Secretory Demands and Adaption to Stress;Endocrinology;2021-08-18

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