20-03143-CR) Dari Intractable & Rare Dise

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Judul Your Submission to Intractable & Rare Diseases Research (Ms No.

^_IRDR^_-20-03143-CR)

Dari Intractable & Rare Diseases Research

<oﬃ[email protected]>

Kepada: <[email protected]>,

<[email protected]>

Cc: <[email protected]>,

<[email protected]>,

<[email protected]>

Tanggal 10 Nov 2020 jam 14.54 Dear Dr. Sultana MH Faradz,

Your manuscript entitled "Clinical Manifestation and Genetic Analysis of Familial Rare Disease

Genodermatosis Xeroderma Pigmentosum" has been successfully submitted online and is presently being given full consideration for publication in Intractable &

Rare Diseases Research.

Your Ms No. is "IRDR-20-03143-CR"

Your manuscript will be assigned to an editor shortly. If you have any queries, please feel free to contact us by e-mail. And please refer to the above Ms No. in all future correspondence.

We appreciate your interest in Intractable & Rare Diseases Research and thank you for submitting your manuscript to this journal.

Kind regards,

Intractable & Rare Diseases Research Editorial Office

--- Pearl City Koishikawa 603 2-4-5 Kasuga, Bunkyo-ku Tokyo 112-0003, Japan

E-mail: [email protected] URL: https://www.irdrjournal.com/

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^_IRDR^_-20-03143-CR)

Dari IRDR Oﬃce <oﬃ[email protected]>

Kepada: <[email protected]>

<[email protected]>

Tanggal 6 Jan jam 10.27 Ms No.: IRDR-20-03143-CR

Title: Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum Authors: Yuniati R, Sihombing NRB, Nauphar D, Kartikasari DS, Dewi M, Faradz SMH

Type: Case Report

Dear Dr. Sultana MH Faradz,

Thank you for submitting the manuscript mentioned above to Intractable & Rare Diseases Research.

Your manuscript has been fully evaluated, and the comments are listed below. Revision and response is necessary before the paper can be considered for further review.

When you revise your manuscript, please reply to the

comments point-by-point in your cover letter. Please note that the response document should be formatted as follows: 1) quote the comment; 2) give your response, including the change made in the manuscript, 3) detail the location (page and paragraph in the revised manuscript) where the change may be found. Also, please underline or highlight all changes made in the text when you revise the manuscript.

When you resubmit your manuscript, please send the files (a revised manuscript and a cover letter with response to reviewer's comments) by e-mail to our editorial office ([email protected]) but not by on-line.

We look forward to receiving your revised manuscript within 3 weeks. If you have any queries, please feel free to contact us.

Sincerely,

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Sincerely,

Anne Taylor, Ph.D.

Senior Editor

Intractable & Rare Disease Research

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Intractable & Rare Diseases Research Editorial Office:

Pearl City Koishikawa 603 2-4-5 Kasuga, Bunkyo-ku Tokyo 112-0003, Japan

E-mail: [email protected] URL: https://www.irdrjournal.com

https://www.ncbi.nlm.nih.gov/pmc/journals/2567

Comments from Reviewers:

In this study, the authors reported four cases with XP from two families in Indonesia. Mutation analysis found ERCC2, c2047C>T and XPC, c1941T>A in the first and second families, respectively.

The comments are listed below:

1.Abstract, Discussion, and Conclusion: The authors indicated that “…. this is the first case report of XP in Indonesia….”. Such a description of “first case report”

needs to be supported by evidence. Please describe the literature search strategy and its results.

2.Is there any recent follow-up information for the patients? If have, please add the description.

3. In order to provide the reader with a clearer

understanding of the most important information of this study, it is suggested that the authors add a Table listing the most significant findings of “clinical examination, genetic analysis, and extensive histopathological

examination, including immunohistochemistry staining”

from the cases in this study.

4.Figures: The authors have stated that “Written

informed consent was obtained from all parents”. But for Figures 2 and Figure 3, is it necessary to slightly shade the patient's face? For example, a black bar over the eyes?

If added, would it interfere with the description of clinical features?

Comments from Editorial Office:

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1.Please check that all acronyms are defined on first usage both in the abstract and the main text of the

manuscript, unless the term is a well-known abbreviation (e.g. DNA).

2.Figures: Please provide the high-resolution images of Figures 1-5. Please make sure that the symbols and numbers appeared in the figures should be clear. Please make sure that artwork files are in an acceptable format (TIFF or JPEG) at minimum resolution (600 dpi for illustrations, graphs, and annotated artwork, and 300 dpi for micrographs and photographs).

3. Figures: Please confirm that all of Figures are original ones made by the author for this article and have not been published previously. Please note that if the Figures have been published, the permission from the copyright owner is required.

4.Acknowledgments: Please add a description on the

“Funding” for this study if it needs to be credited. If no funding for each author, please state “Funding: None”.

5. Please make a further revision on the format of references. Please note that for reference list: cite the names of all authors when there are fifteen or fewer authors; if there are sixteen or more authors, list the first three followed by et al. Names of journals should be abbreviated in the style used in PubMed. If it is a reference written by non-English, please mark it following by the reference, such as (in Indonesian).

Authors are responsible for the accuracy of the

references. Please make a further revision according to the following samples:

Example 1 (Sample journal reference):

Inagaki Y, Tang W, Zhang L, Du GH, Xu WF, Kokudo N.

Novel aminopeptidase N (APN/CD13) inhibitor 24F can suppress invasion of hepatocellular carcinoma cells as well as angiogenesis. Biosci Trends. 2010; 4:56-60.

Example 2 (Sample journal reference with more than 15 authors):

Darby S, Hill D, Auvinen A, et al. Radon in homes and risk of lung cancer: Collaborative analysis of individual data from 13 European case-control studies. BMJ. 2005;

330:223.

Example 3 (Sample book reference):

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Example 3 (Sample book reference):

Shalev AY. Post-traumatic stress disorder: Diagnosis, history and life course. In: Post-traumatic Stress Disorder, Diagnosis, Management and Treatment (Nutt DJ,

Davidson JR, Zohar J, eds.). Martin Dunitz, London, UK, 2000; pp. 1-15.

Example 4 (Sample web page reference):

World Health Organization. The World Health Report 2008 – primary health care: Now more than ever.

http://www.who.int/whr/2008/whr08_en.pdf (accessed September 23, 2020).

Attached please find a “JOURNAL PUBLISHING AGREEMENT” form. After you complete this form with hand-written signature, please send it back to Editorial Office by e-mail

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PublishingAgreement_IRDR.pdf

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^_IRDR^_-20-03143-CR)

Dari IRDR Oﬃce <oﬃ[email protected]>

<[email protected]>

Tanggal 5 Mar jam 09.25 Ms No.: IRDR-20-03143-CR

Title: Clinical manifestation and genetic analysis of familial rare disease genodermatosis xeroderma pigmentosum Authors: Yuniati R, Sihombing NRB, Nauphar D, Tiawarman B, Kartikasari DS, Dewi M, Faradz SMH Type: Case Report

Dear Dr. Faradz and co-authors,

Your revised manuscript has been fully reviewed. We are pleased to inform you that it will be accepted for publication in Intractable & Rare Disease Research. And you will receive the galley proof for confirmation soon.

Sincerely,

Anne Taylor, Ph.D.

Senior Editor

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Judul Galley Proof: Your Submission to Intractable & Rare Diseases Research (Ms No. ^_IRDR^_-20-03143-CR) Dari IRDR Oﬃce <oﬃ[email protected]>

<[email protected]>

Dear Dr. Faradz,

Attached please find the galley Proof and Proof Check Table.

Please read the entire manuscript carefully to verify that no changes in meaning have been introduced into the text through editorial corrections. Corrections should be limited to typographical errors. Please do this by means of a table (Please see an example in the attachment Proof Check Table), giving the location of the error in the left-hand

column and the correction required in the right-hand column.

In addition, please check the abbreviated names appeared in this table.

Please note that this Proof Check Table but not the Proof must be sent back even no errors were found. You may return this table to us using 'reply' button to this e-mail

([email protected]).

Please respond within 3 days.

If you have any queries, please feel free to contact us.

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Judul Updated Proof: Your Submission to Intractable & Rare Diseases Research (Ms No. ^_IRDR^_-20-03143-CR) Dari IRDR Oﬃce <oﬃ[email protected]>

Kepada: Nydia R Benita Sihombing

<[email protected]>

Cc: Prof. Sultana

<[email protected]>, Renni Yuniati <[email protected]>, Donny Naufar

<[email protected]>, Diah Shinta

<[email protected]>, meirasudana

<[email protected]>

Dear Dr. Faradz and co-authors,

Your Proof Check Table has been received by IRDR Editorial Office, and your galley Proof has been further corrected.

Attached please find the updated proof. If there are any questions, please do contact us within 48 hours. The

opinions received after the designated closure date cannot be revised. We appreciate your understanding and cooperation.

Best regards, Anne Taylor, Ph.D.

Senior Editor

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From: Nydia R Benita Sihombing Sent: Friday, March 12, 2021 12:12 PM To: IRDR Office

Cc: Prof. Sultana ; Renni Yuniati ; Donny Naufar ; Diah Shinta ; meirasudana

Subject: Re: Galley Proof: Your Submission to Intractable &

Rare Diseases Research (Ms No. IRDR-20-03143-CR)

Dear Editor,

On behalf of corresponding author, Prof Sultana MH Faradz, MD, PhD, I would like to send back the proof check table with our corrections as herewith attached.

We are looking forward to the publication. Thank you very much.

Sincerely, Nydia

on behalf of corresponding author Prof Sultana MH Faradz, MD, PhD

Virus-free. www.avast.com

On Wed, Mar 10, 2021 at 1:11 PM IRDR Office <[email protected]>

wrote:

Ms No.: IRDR-20-03143-CR

Dear Dr. Faradz,

Attached please find the galley Proof and Proof Check Table. Please read the entire manuscript carefully to verify that no changes in meaning have been introduced into the text through editorial corrections. Corrections should be limited to typographical errors. Please do this by means of a table (Please see an example in the attachment Proof Check Table), giving the location of the error in the left-hand column and the correction required in the right-hand column. In addition, please check the abbreviated names appeared in this table.

Please note that this Proof Check Table but not the Proof must be sent back even no errors were found. You may return this table to us using 'reply' button to this e-mail

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return this table to us using 'reply' button to this e-mail ([email protected]).

Please respond within 3 days.

If you have any queries, please feel free to contact us.

Sincerely,

Anne Taylor, Ph.D.

Senior Editor

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https://www.ncbi.nlm.nih.gov/pmc/journals/2567/

--

Dr. dr. Nydia Rena Benita Sihombing, MSi.Med Phone no. +62 856 9759 4224

Email [email protected]

Virus-free. www.avast.com

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Version 2_IRDR-20-03143-CR proof advpu