Functional and structural characterization of POR splicing variants reveals pathogenic mechanisms in PORD.
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| Title: | Functional and structural characterization of POR splicing variants reveals pathogenic mechanisms in PORD. |
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| Authors: | Zhang XJ; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Zhou FY; Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, China.; Graduate College of Tianjin Medical University, Tianjin, China., Xu XW; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Wang C; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Qian Y; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Department of Endocrinology, Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China., Gong CY; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Sheng WC; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China., Shu JB; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Cai CQ; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Tianjin Pediatric Research Institute, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin, China., Zhang MY; Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China.; Department of Endocrinology, Children's Hospital, Tianjin University/Tianjin Children's Hospital, Tianjin, China. |
| Source: | Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2026 Apr 27; Vol. 17, pp. 1807069. Date of Electronic Publication: 2026 Apr 27 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-2392 |
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| DOI: | 10.3389/fendo.2026.1807069 |
