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

Author:

McInerney-Leo Aideen M.12ORCID,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.

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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

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