Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts
Blue, Elizabeth E, Huang, Samuel J, Khan, Alyna, Golden-Grant, Katie, Boyd, Brenna, Rosenthal, Elisabeth A, Gillentine, Madelyn A, Fleming, Leah R, Adams, David R, Wolfe, Lynne, Allworth, Aimee, Bamshad, Michael J, Caruana, Nikeisha ORCID: https://orcid.org/0000-0002-0817-1686, Chanprasert, Sirisak, Chen, Jingheng, Dargie, Nitsuh, Doherty, Daniel, Friederich, Marisa W, Hisama, Fuki M, Horike-Pyne, Martha, Lee, Jessica C, Donovan, Tonia E, Hock, Daniella H, Leppig, Kathleen A, Miller, Danny E, Mirzaa, Ghayda, Ranchalis, Jane, Raskind, Wendy H, Michel, Cole R, Reisdorph, Richard, Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Stroud, David A
ORCID: https://orcid.org/0000-0002-2048-3383, Sybert, Virginia P, Wener, Mark H, Stergachis, Andrew B, Lam, Christina T, Jarvik, Gail P, Dipple, Katrina A, Van Hove, Johan LK and Glass, Ian A
(2024)
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Rare, 2.
ISSN 2950-0087
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| Item type | Article |
| URI | https://vuir.vu.edu.au/id/eprint/49644 |
| DOI | 10.1016/j.rare.2024.100040 |
| Official URL | https://www.sciencedirect.com/science/article/pii/... |
| Subjects | Current > FOR (2020) Classification > 3101 Biochemistry and cell biology Current > FOR (2020) Classification > 3202 Clinical sciences Current > Division/Research > Institute for Health and Sport |
| Download/View statistics | View download statistics for this item |
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