Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations

Author:

Stutterd Chloe A.1234ORCID,Kidd Alexa5,Florkowski Chris6,Janus Edward78,Fanjul Miriam13,Raizis Anthony9,Wu Teddy Y.10,Archer John11,Leventer Richard J.123,Amor David J.13,Lukic Vesna12,Bahlo Melanie1314,Gow Paul15,Lockhart Paul J.13,Knaap Marjo S.1617,Delatycki Martin B.134

Affiliation:

1. Murdoch Children's Research Institute Parkville Australia

2. Department of Neurology Royal Children's Hospital Parkville Australia

3. Department of Pediatrics University of Melbourne Melbourne Australia

4. Victorian Clinical Genetics Services Parkville Australia

5. Genetics Department Canterbury Health laboratory Christchurch New Zealand

6. Clinical Biochemistry Unit Canterbury Health Laboratories Christchurch New Zealand

7. Western Health General Internal Medicine Unit St Albans Australia

8. Department of Medicine, Western Health The University of Melbourne Melbourne Australia

9. Department of Molecular Pathology Canterbury Health Laboratories Christchurch New Zealand

10. Department of Neurology Christchurch Hospital Christchurch New Zealand

11. Department of Medicine, Austin Health The University of Melbourne Melbourne Australia

12. Bioinformatics Division The Walter and Eliza Hall Institute of Medical Research Parkville Australia

13. Population Health and Immunity Division The Walter and Eliza Hall Institute of Medical Research Parkville Australia

14. Department of Medical Biology The University of Melbourne Melbourne Australia

15. Liver Transplant Unit, Austin Hospital University of Melbourne Melbourne Australia

16. Department of Child Neurology, Emma Children's Hospital Amsterdam University Medical Centers Amsterdam The Netherlands

17. Department of Functional Genomics, Center for Neurogenomics and Cognitive Research VU University Amsterdam and Amsterdam Neuroscience Amsterdam The Netherlands

Funder

National Health and Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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