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. |
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| 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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| ISSN: | 2296-2360 |
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| DOI: | 10.3389/fped.2026.1864993 |
