Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma

Ma, M., Ganapathi, M., Zheng, Y., Tan, K.-L., Kanca, O., Bove, K. E., Quintanilla, N., Sag, S. O., Temel, S. G., LeDuc, C. A., McPartland, A. J., Pereira, E. M., Shen, Y., Hagen, J., Thomas, C. P., Nguyen Galván, N. T., Pan, X., Lu, S., Rosenfeld, J. A., … Bellen, H. J. (2024). Homozygous missense variants in YKT6 result in loss of function and are associated with developmental delay, with or without severe infantile liver disease and risk for hepatocellular carcinoma. Genetics in Medicine, 26(7), 101125. https://doi.org/10.1016/j.gim.2024.101125
Authors:
Mengqi Ma
Mythily Ganapathi
Yiming Zheng
Kai-Li Tan
Oguz Kanca
Kevin E Bove
Norma Quintanilla
Sebnem O Sag
Sehime G Temel
Charles A LeDuc
Amanda J McPartland
Elaine M Pereira
Yufeng Shen
Jacob Hagen
Christie P Thomas
Nhu Thao Nguyen Galván
Xueyang Pan
Shenzhao Lu
Jill A Rosenfeld
Daniel G Calame
Michael F Wangler
James R Lupski
Davut Pehlivan
Paula M Hertel
Wendy K Chung
Hugo J Bellen
Affiliated Authors:
Mythily Ganapathi
Charles A LeDuc
Amanda J McPartland
Elaine M Pereira
Yufeng Shen
Jacob Hagen
Author Keywords:
autophagy
drosophila
failure to thrive
fat body
syrian christians of india
Publication Type:
Article
Unique ID:
10.1016/j.gim.2024.101125
PMID:
Publication Date:
Data Source:
PubMed

Record Created: