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

Blue, E. E., Huang, S. J., Khan, A., Golden-Grant, K., Boyd, B., Rosenthal, E. A., Gillentine, M. A., Fleming, L. R., Adams, D. R., Wolfe, L., Allworth, A., Bamshad, M. J., Caruana, N. J., Chanprasert, S., Chen, J., Dargie, N., Doherty, D., Friederich, M. W., Hisama, F. M., … Glass, I. A. (2024). Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts. Rare, 2, 100040. https://doi.org/10.1016/j.rare.2024.100040
Authors:
Elizabeth E Blue
Samuel J Huang
Alyna Khan
Katie Golden-Grant
Brenna Boyd
Elisabeth A Rosenthal
Madelyn A Gillentine
Leah R Fleming
David R Adams
Lynne Wolfe
Aimee Allworth
Michael J Bamshad
Nikeisha J Caruana
Sirisak Chanprasert
Jingheng Chen
Nitsuh Dargie
Daniel Doherty
Marisa W Friederich
Fuki M Hisama
Martha Horike-Pyne
Jessica C Lee
Tonia E Donovan
Daniella H Hock
Kathleen A Leppig
Danny E Miller
Ghayda Mirzaa
Jane Ranchalis
Wendy H Raskind
Cole R Michel
Richard Reisdorph
Ulrike Schwarze
Sam Sheppeard
Samuel Strohbehn
David A Stroud
Virginia P Sybert
Mark H Wener
Andrew B Stergachis
Christina T Lam
Gail P Jarvik
Katrina M Dipple
Johan L K Van Hove
Ian A Glass
Affiliated Authors:
Brenna Boyd
Columbia Affiliation:
Subjects:
Mitochondrial Dynamics and Reactive Oxygen Species Regulation (OpenAlex Topic)
Metabolic Disorders and Biochemical Genetics (OpenAlex Topic)
Structure and Function of Gap Junctions and Connexins (OpenAlex Topic)
Author Keywords:
gja8
uqcrfs1
alopecia
cataracts
mitochondrial complex iii
phenotypic spectrum
rare disease
elink
Publication Type:
Article
Unique ID:
10.1016/j.rare.2024.100040
PMID:
39421685
DOI:
10.1016/j.rare.2024.100040
Journal:
Rare (Amsterdam, Netherlands)
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View OpenAlex Record

Record Created: