Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?

Eur J Hum Genet. 2023 Apr;31(4):371-374. doi: 10.1038/s41431-023-01293-0. Epub 2023 Feb 3.

Ari E Horton^{1

2

3

4}, Sebastian Lunke^{5

6

7}, Simon Sadedin⁵, Andrew P Fennell^{1

4}, Zornitza Stark^{8

9

10}

¹ Monash Genetics, Monash Health, Melbourne, VIC, Australia.
² Monash Heart and Monash Children's Hospital, Monash Health, Melbourne, VIC, Australia.
³ Monash Cardiovascular Research Centre, Victorian Heart Institute, Melbourne, VIC, Australia.
⁴ Department of Paediatrics, Monash University, Melbourne, VIC, Australia.
⁵ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.
⁶ University of Melbourne, Melbourne, VIC, Australia.
⁷ Australian Genomics, Melbourne, VIC, Australia.
⁸ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.
⁹ University of Melbourne, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.
¹⁰ Australian Genomics, Melbourne, VIC, Australia. zornitza.stark@vcgs.org.au.

No abstract available

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