Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variant

Kaniganti, T., Gean-Akriv, G., Keidar, T., Levy-Shraga, Y., Debby, A., Grinberg, I., Polak-Charcon, S., Zarbib, Y. H., Yardeni, T., Ollech, A., Weiss, R., Venkataraman, L., Kaler, S. G., & Manor, J. (2025). Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variant. Molecular Genetics and Metabolism, 144(4), 109056. https://doi.org/10.1016/j.ymgme.2025.109056
Authors:
Tarun Kaniganti
Galit Gean-Akriv
Tal Keidar
Yael Levy-Shraga
Asaf Debby
Igor Grinberg
Sylvie Polak-Charcon
Yarden Haham Zarbib
Tal Yardeni
Ayelet Ollech
Ron Weiss
Lalitha Venkataraman
Stephen G Kaler
Joshua Manor
Affiliated Authors:
Tarun Kaniganti
Stephen G Kaler
Author Keywords:
adaptor protein complex
copper transport
kidar
Publication Type:
Article
Unique ID:
10.1016/j.ymgme.2025.109056
PMID:
Publication Date:
Data Source:
PubMed

Record Created: