Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum-Reference-Cited by-同舟云学术

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum

Published:2017-04-19 Issue:6 Volume:173 Page:1698-1704
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

McInerney-Leo Aideen M.¹²^ORCID,Wheeler Lawrie¹,Marshall Mhairi S.¹,Anderson Lisa K.¹,Zankl Andreas³⁴,Brown Matthew A.¹,Leo Paul J.¹,Wicking Carol⁵,Duncan Emma L.¹⁶⁷⁸

Affiliation:

1. Translational Genomics Group; Institute of Health and Biomedical Innovation (IHBI); Queensland University of Technology (QUT) at the Translational Research Institute; Brisbane Queensland Australia

2. The University of Queensland Diamantina Institute; University of Queensland; Brisbane Queensland Australia

3. Discipline of Genetic Medicine; The University of Sydney; Sydney Australia

4. Academic Department of Medical Genetics; Sydney Children's Hospital Network (Westmead); Sydney Australia

5. Institute for Molecular Bioscience; The University of Queensland; Brisbane, Queensland Australia

6. Department of Endocrinology, James Mayne Building; Royal Brisbane and Women's Hospital; Queensland Australia

7. School of Medicine, Faculty of Medicine; The University of Queensland; Brisbane, Queensland Australia

8. University of Queensland Diamantina Institute; University of Queensland; Brisbane, Queensland Australia

Funder

National Health and Medical Research Council

Rebecca L. Cooper Medical Research Foundation

University of Queensland

Institute for Molecular Science

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference28 articles.

1. In search of triallelism in Bardet-Biedl syndrome;Abu-Safieh;European Journal of Human Genetics,2012

2. Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes;Abu-Safieh;Genome Research,2013

3. Subunit composition of the human cytoplasmic dynein-2 complex;Asante;Journal of Cell Science,2014

4. Decoding cilia function: Defining specialized genes required for compartmentalized cilia biogenesis;Avidor-Reiss;Cell,2004

5. Review of current methods, applications, and data management for the bioinformatics analysis of whole exome sequencing;Bao;Cancer Inform,2014

Cited by 19 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. ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons;Acta Neuropathologica Communications;2024-09-04

2. Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410 , associated with selective cone degeneration;Ophthalmic Genetics;2024-09-04

3. The C-terminus of CFAP410 forms a tetrameric helical bundle that is essential for its localization to the basal body;Open Biology;2024-09

4. Double Hyperautofluorescence Rings as a Sign of CFAP410-related Retinopathy;Investigative Opthalmology & Visual Science;2023-12-28

5. The C-terminus of CFAP410 forms a tetrameric helical bundle that is essential for its localization to the basal body;2023-11-30