Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy-Reference-Cited by-同舟云学术

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Published:2021-07 Issue:7 Volume:108 Page:1301-1317
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Wong Hui Hui,Seet Sze Hwee,Maier Michael,Gurel Ayse,Traspas Ricardo Moreno,Lee Cheryl,Zhang Shan,Talim Beril,Loh Abigail Y.T.,Chia Crystal Y.,Teoh Tze Shin,Sng Danielle,Rensvold Jarred,Unal Sule,Shishkova Evgenia,Cepni Ece,Nathan Fatima M.,Sirota Fernanda L.,Liang Chao,Yarali Nese,Simsek-Kiper Pelin O.,Mitani Tadahiro,Ceylaner Serdar,Arman-Bilir Ozlem,Mbarek Hamdi,Gumruk Fatma,Efthymiou Stephanie,Uğurlu Çi̇men Deniz,Georgiadou Danai,Sotiropoulou Kortessa,Houlden Henry,Paul Franziska,Pehlivan Davut,Lainé Candice,Chai Guoliang,Ali Nur Ain,Choo Siew Chin,Keng Soh Sok,Boisson Bertrand,Yılmaz Elanur,Xue Shifeng,Coon Joshua J.,Ly Thanh Thao Nguyen,Gilani Naser,Hasbini Dana,Kayserili Hulya,Zaki Maha S.,Isfort Robert J.,Ordonez Natalia,Tripolszki Kornelia,Bauer Peter,Rezaei Nima,Seyedpour Simin,Khotaei Ghamar Taj,Bascom Charles C.,Maroofian Reza,Chaabouni Myriam,Alsubhi Afaf,Eyaid Wafaa,Işıkay Sedat,Gleeson Joseph G.,Lupski James R.,Casanova Jean-Laurent,Pagliarini David J.,Akarsu Nurten A.,Maurer-Stroh Sebastian,Cetinkaya Arda,Bertoli-Avella Aida,Mathuru Ajay S.,Ho Lena,Bard Frederic A.,Reversade Bruno^ORCID

Funder

National Medical Research Council

Howard Hughes Medical Institute

The Rockefeller University

Government of Singapore Ministry of Education

St Giles Foundation

INSERM

National Research Foundation of Singapore

Muscular Dystrophy Association

Procter & Gamble

A*STAR

Uehara Memorial Foundation