Tweet Review
Content of review 1, reviewed on November 10, 2022
see attached file
Source
© 2022 the Reviewer.
Content of review 2, reviewed on February 02, 2023
Results:
Family 1: at which age was the ERG performed.
Family 2: the sentence on not passing the newborn hearing screening was removed but should remain.
Description of family 3, first line: remove 'of age'.
The second variant in family 3, when first mentioned in the results section: add the nucleotide variant.
Discussion:
2nd paragraph, 2nd sentence: suggesting is missing before 'an unreported combination'.
Check again: if you indicate a variant in the LRP2 gene (in italics), then mention the variant in cDNA nomenclature. When mentioning a variant at the protein level, then you need to use the p.... nomenclature for the variant. This is not correctly done at several places in the discussion.
Table S2: for one of the COL11A1 variants it is not indicated in which individual the variant was identified.
Source
© 2023 the Reviewer.
References
Rabia, F., Rizwan, Y., Shoujun, G., Sayaka, I., E., T. A., Keith, P., Bin, G., Amelia, N., J., G. A., Mawuli, A. S., Twumasi, A. E., A., A. G., J., M. R., Ekaterini, T., G., N. A., G., S. L. A., Ambroise, W., Isabelle, S., M., L. S., Hela, A., C., B. C., Sheikh, R., B., H. R., Michael, H., M., Z. W., Karl, d. D. J., B., F. T. 2023. Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. Clinical Genetics.
