About the Authors

Denise Anderson

Contributed equally to this work with: Denise Anderson, Heather J. Cordell, Michaela Fakiola

Affiliation Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, 6008, Australia

Heather J. Cordell

Contributed equally to this work with: Denise Anderson, Heather J. Cordell, Michaela Fakiola

Affiliation Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, NE1 3BZ, United Kingdom

Michaela Fakiola

Contributed equally to this work with: Denise Anderson, Heather J. Cordell, Michaela Fakiola

Affiliations Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, 6008, Australia, Cambridge Institute for Medical Research, Department of Medicine, and Department of Pathology, University of Cambridge, Cambridge, United Kingdom

Richard W. Francis

Affiliation Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, 6008, Australia

Genevieve Syn

Affiliation Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, 6008, Australia

Elizabeth S. H. Scaman

Affiliation Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, 6008, Australia

Elizabeth Davis

Affiliations Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, 6008, Australia, Department of Endocrinology and Diabetes, Princess Margaret Hospital for Children, Subiaco, Western Australia, 6008, Australia

Simon J. Miles

Affiliation Ngangganawili Aboriginal Health Service, Wiluna, Western Australia, 6646, Australia

Toby McLeay

Affiliation Ngangganawili Aboriginal Health Service, Wiluna, Western Australia, 6646, Australia

Sarra E. Jamieson

Affiliation Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, 6008, Australia

Jenefer M. Blackwell

jenefer.blackwell@telethonkids.org.au

Affiliations Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, 6008, Australia, Cambridge Institute for Medical Research, Department of Medicine, and Department of Pathology, University of Cambridge, Cambridge, United Kingdom

Competing Interests

The authors have declared that no competing interests exist.

Author Contributions

Conceived and designed the experiments: HJC ED SEJ JMB. Performed the experiments: GS ESHS SEJ JMB. Analyzed the data: DA HJC MF RWF GS JMB. Wrote the paper: DA HJC MF SEJ JMB. Clinical diagnosis, clinical care, and assistance with recruitment: SJM TM.