Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy

Faridi, R., Yousaf, R., Gu, S., Inagaki, S., Turriff, A. E., Pelstring, K., Guan, B., Naik, A., Griffith, A. J., Adadey, S. M., Aboagye, E. T., Awandare, G. A., Morell, R. J., Tsilou, E., Noyes, A. G., Sulmonte, L. A. G., Wonkam, A., Schrauwen, I., Leal, S. M., … Friedman, T. B. (2023). Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical Genetics, 103(6), 699–703. Portico. https://doi.org/10.1111/cge.14312
Authors:
Rabia Faridi
Rizwan Yousaf
Shoujun Gu
Sayaka Inagaki
Amy E Turriff
Keith Pelstring
Bin Guan
Amelia Naik
Andrew J Griffith
Samuel Mawuli Adadey
Elvis Twumasi Aboagye
Gordon A Awandare
Robert J Morell
Ekaterini Tsilou
Amanda G Noyes
Laura A G Sulmonte
Ambroise Wonkam
Isabelle Schrauwen
Suzanne M Leal
Hela Azaiez
Carmen C Brewer
Sheikh Riazuddin
Robert B Hufnagel
Michael Hoa
Wadih M Zein
J Karl de Dios
Thomas B Friedman
Affiliated Authors:
Isabelle Schrauwen
Suzanne M Leal
Subjects:
Author Keywords:
deafness
donnai–barrow syndrome
lrp2
megalin
retinal dystrophy
rnaseq
stria vascularis
donnai-barrow syndrome
Publication Type:
Article
Unique ID:
10.1111/cge.14312
PMID:
Publication Date:
Data Source:
PubMed

Record Created: