Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Genet Med
.
2023 Jun;25(6):100828.
doi: 10.1016/j.gim.2023.100828.
Epub 2023 Apr 13.
Authors
Georg F Vogel
,
Yael Mozer-Glassberg
,
Yuval E Landau
,
Lea D Schlieben
,
Holger Prokisch
,
René G Feichtinger
,
Johannes A Mayr
,
Heiko Brennenstuhl
,
Julian Schröter
,
Agnes Pechlaner
,
Fowzan S Alkuraya
,
Joshua J Baker
,
Giulia Barcia
,
Ivo Baric
,
Nancy Braverman
,
Birute Burnyte
,
John Christodoulou
,
Elzbieta Ciara
,
David Coman
,
Anibh M Das
,
Niklas Darin
,
Adela Della Marina
,
Felix Distelmaier
,
Erik A Eklund
,
Melike Ersoy
,
Weiyan Fang
,
Pauline Gaignard
,
Rebecca D Ganetzky
,
Emmanuel Gonzales
,
Caoimhe Howard
,
Joanne Hughes
,
Vassiliki Konstantopoulou
,
Melis Kose
,
Marina Kerr
,
Aneal Khan
,
Dominic Lenz
,
Robert McFarland
,
Merav Gil Margolis
,
Kevin Morrison
,
Thomas Müller
,
Kei Murayama
,
Emanuele Nicastro
,
Alessandra Pennisi
,
Heidi Peters
,
Dorota Piekutowska-Abramczuk
,
Agnès Rötig
,
René Santer
,
Fernando Scaglia
,
Manuel Schiff
,
Mohmmad Shagrani
,
Mark Sharrard
,
Claudia Soler-Alfonso
,
Christian Staufner
,
Imogen Storey
,
Michael Stormon
,
Robert W Taylor
,
David R Thorburn
,
Elisa Leao Teles
,
Jian-She Wang
,
Daniel Weghuber
,
Saskia Wortmannd
PMID:
37272928
DOI:
10.1016/j.gim.2023.100828
No abstract available
Publication types
Published Erratum