QRICH1 variants in Ververi‐Brady syndrome—delineation of the genotypic and phenotypic spectrum-Reference-Cited by-同舟云学术

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

Published:2020-11-10 Issue:1 Volume:99 Page:199-207
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Föhrenbach Melanie¹,Jamra Rami Abou²,Borkhardt Arndt³,Brozou Triantafyllia³,Muschke Petra⁴,Popp Bernt²⁵,Rey Linda K.¹,Schaper Jörg⁶,Surowy Harald¹,Zenker Martin⁴,Zweier Christiane⁵^ORCID,Wieczorek Dagmar¹,Redler Silke¹^ORCID

Affiliation:

1. Institute of Human Genetics Heinrich‐Heine‐University Düsseldorf Germany

2. Institute of Human Genetics University Medical Center Leipzig Leipzig Germany

3. Department of Pediatric Oncology, Hematology and Clinical Immunology Heinrich‐Heine‐University Düsseldorf Germany

4. Institute of Human Genetics, University Hospital of Magdeburg Otto‐von‐Guericke‐University Magdeburg Germany

5. Institute of Human Genetics Friedrich‐Alexander‐Universität Erlangen‐Nürnberg Erlangen Germany

6. Department of Diagnostic and Interventional Radiology Heinrich‐Heine‐University Düsseldorf Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13853

Reference13 articles.

1. QRICH1 mutations cause a chondrodysplasia with developmental delay

2. Phenotypic spectrum associated with de novo mutations in QRICH1 gene

3. DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

4. Synaptic, transcriptional and chromatin genes disrupted in autism

5. De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. URLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6821231

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1. QRICH1 suppresses pediatric T-cell acute lymphoblastic leukemia by inhibiting GRP78;Cell Death & Disease;2024-09-04

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

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

4. 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

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