Publication Name	World Journal of Clinical Cases
Manuscript ID	83390
Country	China

Category	Pediatrics
Manuscript Type	Case Report
Article Title	CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and review of literature
Manuscript Source	Unsolicited Manuscript
All Author List	Jie Li, Li-Na Chen and Hai-Lan He
Funding Agency and Grant Number	Funding Agency Grant Number the China Foundation for International Medical Exchange, Pediatric Endocrinology Young and Middle-Aged Doctors’ Growth Research Fund Z-2019-41-2101-01
Corresponding Author	Li-Na Chen, MD, Doctor, Department of Paediatrics, Sichuan Academy of Medical Sciences, Sichuan Provincial People’s Hospital, No. 32, West Section 2, Yihuan Road, Qingyang District, Chengdu 610000, Sichuan Province, China. linachen9755@163.com
Key Words	CDKN1C; Gene; Silver-Russell syndrome; Mutation; Case report
Core Tip	This is the fourth reported case of familial Silver–Russell syndrome (SRS) caused by a new missense mutation in the PCNA-binding domain of CDKN1C.The SRS pedigree, which was due to missense mutation affecting the amino acid position, 279, of the PCNA-binding domain of the CDKN1C gene, resulting in the amino acid substitution p.Arg279His (c.836G>A). Five affected family members also showed SRS phenotypes (small for gestational age, proportionately severe short stature, certain facial features (protruding forehead, triangular face, micrognathia), but without limb asymmetry or adrenal insufficiency. Initial efficacy and safety of growth hormone were observed in the proband treated with growth hormone.
Citation	Li J, Chen LN, He HL. CDKN1C gene mutation causing familial Silver–Russell syndrome: A case report and literature review. World J Clin Cases 2023; 11(19): 4655-4663

Received	2023-02-01 13:02
Peer-Review Started	2023-02-01 13:03
To Make the First Decision
Return for Revision	2023-04-19 04:00
Revised	2023-05-05 05:44
Second Decision	2023-05-31 03:10
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief	2023-05-31 07:55
Articles in Press	2023-05-31 07:55
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript	2023-06-06 07:52

ISSN	2307-8960 (online)
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