Molecular Bases of Human Malformation Syndromes Involving the SHH Pathway: GLIA/R Balance and Cardinal Phenotypes
Round 1
Reviewer 1 Report
I think the authors have done extensive work trying to analyze these HH-related abnormalities and a great deal of effort trying to explain it.
I just want to make two suggestions:
Check line 104, it shows "figure 3c" and I think the correct thing is "figure 1c".
Check the numbering of the pages. Since number 12 it is not correct.
Author Response
To Reviewer 1
Dear Reviewer,
Thank you for taking the time and effort to peer review our manuscript. We are also grateful for your very positive feedback.
We have revised the manuscript for the points you pointed out.
- “Figure 3c” on line 104 has been corrected to “Figure 1c”.
- As you pointed out, the number of pages after Table 1 is incorrect. However, this was due to the MS Word template settings and I couldn't fix it. I asked the editor to make corrections when editing.
Sincerely,
Reviewer 2 Report
The manuscript addresses the theme of the molecular mechanisms involved in embryonic morphogenesis and the role of the Sonic Hedgehog (SHH) pathway in human hereditary malformation syndromes. The authors explained the basic mechanism of the SHH pathway, which is supported by a cellular structure known as the primary cilium. Also, they demonstrated there is a correlation between syndromes associated with the SHH pathway and the net effect of the output level of the SHH pathway. The originality of the manuscript consists in the fact that the authors realize a classification of the phenotypes of human malformation syndromes due to mutations in the major constituent genes of the SHH pathway.
Comments for author File: 
Comments.pdf
Author Response
To Reviewer 2
Dear Reviewer,
Thank you for taking the time and effort to peer review our manuscript. We are also grateful for your very positive feedback.
We have revised the manuscript for the points you pointed out.
The sentence "Based on our analysis, ~" from line 59 has been moved to the end of the conclusion chapter (line 592 ~).
Sincerely,
