A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome

Malik, M. A., Saqib, M. A. N., Mientjes, E., Acharya, A., Alam, M. R., Wallaard, I., Schrauwen, I., Bamshad, M. J., Santos-Cortez, R. L. P., Elgersma, Y., Leal, S. M., & Ansar, M. (2023). A loss of function variant in AGPAT3 underlies intellectual disability and retinitis pigmentosa (IDRP) syndrome. European Journal of Human Genetics, 31(12), 1447–1454. https://doi.org/10.1038/s41431-023-01475-w
Authors:
Madiha Amin Malik
Muhammad Arif Nadeem Saqib
Edwin Mientjes
Anushree Acharya
Muhammad Rizwan Alam
Ilse Wallaard
Isabelle Schrauwen
Michael J Bamshad
Regie Lyn P Santos-Cortez
Ype Elgersma
Suzanne M Leal
Muhammad Ansar
Affiliated Authors:
Anushree Acharya
Isabelle Schrauwen
Suzanne M Leal
Publication Type:
Article
Unique ID:
10.1038/s41431-023-01475-w
PMID:
Publication Date:
Data Source:
PubMed

Record Created: