Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy
Am J Hum Genet
.
2021 Jul 1;108(7):1356.
doi: 10.1016/j.ajhg.2021.06.009.
Authors
Hui Hui Wong
,
Sze Hwee Seet
,
Michael Maier
,
Ayse Gurel
,
Ricardo Moreno Traspas
,
Cheryl Lee
,
Shan Zhang
,
Beril Talim
,
Abigail Y T Loh
,
Crystal Y Chia
,
Tze Shin Teoh
,
Danielle Sng
,
Jarred Rensvold
,
Sule Unal
,
Evgenia Shishkova
,
Ece Cepni
,
Fatima M Nathan
,
Fernanda L Sirota
,
Chao Liang
,
Nese Yarali
,
Pelin O Simsek-Kiper
,
Tadahiro Mitani
,
Serdar Ceylaner
,
Ozlem Arman-Bilir
,
Hamdi Mbarek
,
Fatma Gumruk
,
Stephanie Efthymiou
,
Deniz Uğurlu Çïmen
,
Danai Georgiadou
,
Kortessa Sotiropoulou
,
Henry Houlden
,
Franziska Paul
,
Davut Pehlivan
,
Candice Lainé
,
Guoliang Chai
,
Nur Ain Ali
,
Siew Chin Choo
,
Soh Sok Keng
,
Bertrand Boisson
,
Elanur Yılmaz
,
Shifeng Xue
,
Joshua J Coon
,
Thanh Thao Nguyen Ly
,
Naser Gilani
,
Dana Hasbini
,
Hulya Kayserili
,
Maha S Zaki
,
Robert J Isfort
,
Natalia Ordonez
,
Kornelia Tripolszki
,
Peter Bauer
,
Nima Rezaei
,
Simin Seyedpour
,
Ghamar Taj Khotaei
,
Charles C Bascom
,
Reza Maroofian
,
Myriam Chaabouni
,
Afaf Alsubhi
,
Wafaa Eyaid
,
Sedat Işıkay
,
Joseph G Gleeson
,
James R Lupski
,
Jean-Laurent Casanova
,
David J Pagliarini
,
Nurten A Akarsu
,
Sebastian Maurer-Stroh
,
Arda Cetinkaya
,
Aida Bertoli-Avella
,
Ajay S Mathuru
,
Lena Ho
,
Frederic A Bard
,
Bruno Reversade
PMID:
34214448
PMCID:
PMC8322923
DOI:
10.1016/j.ajhg.2021.06.009
No abstract available
Publication types
Published Erratum
Grants and funding
R35 GM131795/GM/NIGMS NIH HHS/United States