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 J.; 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.; Sybert, Virginia P.; Wener, Mark H.; Stergachis, Andrew B.; Lam, Christina T.; Jarvik, Gail P.; Dipple, Katrina M.; Van Hove, Johan L.K.; Glass, Ian A.

doi:10.1016/j.rare.2024.100040

Rare

2024

DOI: 10.1016/j.rare.2024.100040

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Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

Elizabeth E. Blue,

Samuel J. Huang,

Alyna Khan

et al.

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Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

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References 81 publications

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