QRICH1 mutations cause a chondrodysplasia with developmental delay-Reference-Cited by-同舟云学术

QRICH1 mutations cause a chondrodysplasia with developmental delay

Published:2018-10-26 Issue:1 Volume:95 Page:160-164
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Lui Julian C.¹,Jee Youn Hee¹,Lee Audrey¹,Yue Shanna¹,Wagner Jacob¹,Donnelly Deirdre E.²,Vogt Karen S.³,Baron Jeffrey¹

Affiliation:

1. Section on Growth and DevelopmentEunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health Bethesda Maryland

2. Northern Ireland Regional Genetics Centre, Belfast Health and Social Care TrustBelfast City Hospital Belfast UK

3. Division of Endocrinology, Department of PediatricsWalter Reed National Military Medical Center Bethesda Maryland

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13457

Reference5 articles.

1. Short and tall stature: a new paradigm emerges

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

3. BRF1mutations in a family with growth failure, markedly delayed bone age, and central nervous system anomalies

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

5. The New World of Clinical Genomics

Cited by 9 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. 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