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Volume 13
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Review
Peer-Review Record

From Genotype to Phenotype—A Review of Kabuki Syndrome†

Genes 2022, 13(10), 1761; https://doi.org/10.3390/genes13101761
by Kelly K. Barry 1, Michaelangelo Tsaparlis 2, Deborah Hoffman 3, Deborah Hartman 4, Margaret P. Adam 5, Christina Hung 2 and Olaf A. Bodamer 2,6,*
Reviewer 1:
Cesare Danesino
Reviewer 2: Anonymous
Genes 2022, 13(10), 1761; https://doi.org/10.3390/genes13101761
Submission received: 6 September 2022 / Revised: 23 September 2022 / Accepted: 24 September 2022 / Published: 29 September 2022
(This article belongs to the Special Issue Feature Papers in Human Genomics and Genetic Diseases)

Round 1

Reviewer 1 Report

The Aurthors provide a very good review of existing data about Kabuki Syndrome (KS). Their work is in fact needed, as most of the reports concerning the syndrome refers single cases or short series.  The review is well written and takes into account all the relevant topics about clinical aspects of KS.

A few minor changes, in my opinion, will further improve a good manuscript.

About cancer: lines199-205; I believe that more details should be added, if available, or it should be stated that they are not available; these details concern the age at which all type of cancer was diagnosed and if the age of diagnosis fits the literature data for the same cancer in the non KS population. Similarly, if possible, an attempt could be made to  group the different cancers, or it should be stated that all reported cases seem to be differen from each other.

Similarly, more datails about the different types of genitourinay malformation (lines 223 226) could be added 

The same for liver disease (line 236), which type? just increase of liver enzymes or cirrosis or ?

A comment, if the data are available, about follow up in adulescence or adulthood. 

Finally, in cases in which the disese was transmitted from a parent, was the diagnosis known prior to pregnancy?

are date available to compare severity in parent and child? 

Author Response

Dear reviewer,

we are most grateful for your thoughtful review of our manuscript. The response to your suggestions and comments is included in the attached file. The manuscript has been revised accordingly.

On behalf of the authors

Best wishes

Olaf Bodamer MD PhD

Author Response File: Author Response.docx

Reviewer 2 Report

Please see the attached review.

Comments for author File: Comments.pdf

Author Response

Dear reviewer,

we are most grateful for your thoughtful review of our manuscript. The response to your suggestions and comments is included in the attached file. The manuscript has been revised accordingly.

On behalf of the authors

Best wishes

Olaf Bodamer MD PhD

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