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Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis-a rare case report.

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Title: Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis-a rare case report.
Authors: Li W; Department of Emergency Medicine, Guangdong Second Provincial General Hospital, Third Clinical College of Jinan University, Guangzhou, China., Cao GH; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China., Li NN; Department of Nephrology, The Third Xiangya Hospital of Central South University, Changsha, China., Long JY; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China., Tang YQ; Department of Emergency Medicine, Guangdong Second Provincial General Hospital, Third Clinical College of Jinan University, Guangzhou, China., Liu JS; Department of Nephrology, The Third Xiangya Hospital of Central South University, Changsha, China., Fan LL; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China.
Source: Frontiers in pediatrics [Front Pediatr] 2026 Jul 07; Vol. 14, pp. 1864993. Date of Electronic Publication: 2026 Jul 07 (Print Publication: 2026).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis-a rare case report.
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  Data: <searchLink fieldCode="AU" term="%22Li+W%22">Li W</searchLink>; Department of Emergency Medicine, Guangdong Second Provincial General Hospital, Third Clinical College of Jinan University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Cao+GH%22">Cao GH</searchLink>; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China.<br /><searchLink fieldCode="AU" term="%22Li+NN%22">Li NN</searchLink>; Department of Nephrology, The Third Xiangya Hospital of Central South University, Changsha, China.<br /><searchLink fieldCode="AU" term="%22Long+JY%22">Long JY</searchLink>; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China.<br /><searchLink fieldCode="AU" term="%22Tang+YQ%22">Tang YQ</searchLink>; Department of Emergency Medicine, Guangdong Second Provincial General Hospital, Third Clinical College of Jinan University, Guangzhou, China.<br /><searchLink fieldCode="AU" term="%22Liu+JS%22">Liu JS</searchLink>; Department of Nephrology, The Third Xiangya Hospital of Central South University, Changsha, China.<br /><searchLink fieldCode="AU" term="%22Fan+LL%22">Fan LL</searchLink>; Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China.
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  Data: <searchLink fieldCode="JN" term="%22101615492%22">Frontiers in pediatrics</searchLink> [Front Pediatr] 2026 Jul 07; Vol. 14, pp. 1864993. <i>Date of Electronic Publication: </i>2026 Jul 07 (<i>Print Publication: </i>2026).
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  Data: Case Reports; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Media+SA%22">Frontiers Media SA </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101615492 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2296-2360 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222962360%22">22962360 </searchLink><i>NLM ISO Abbreviation: </i>Front Pediatr <i>Subsets: </i>PubMed not MEDLINE
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      – Type: doi
        Value: 10.3389/fped.2026.1864993
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      – Code: eng
        Text: English
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        StartPage: 1864993
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      – TitleFull: Whole exome sequencing identified a novel compound heterozygous mutation of nephrocystin 4 in a child with nephronophthisis-a rare case report.
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            NameFull: Cao GH
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            – D: 07
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              Text: 2026 Jul 07
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              Y: 2026
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              Value: 14
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