Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia.
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| Title: | Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia. |
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| Authors: | Lee CL; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.; Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei, Taiwan.; International Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Medicine, Mackay Medical University, New Taipei City, Taiwan.; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan., Chuang CK; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.; College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan., Chiu HC; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan., Chang YH; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.; International Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan., Tu YR; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan., Lo YT; International Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan., Wu JY; International Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan., Lin HY; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.; International Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Medicine, Mackay Medical University, New Taipei City, Taiwan.; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan., Lin SP; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.; International Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Medicine, Mackay Medical University, New Taipei City, Taiwan.; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. |
| Source: | Frontiers in genetics [Front Genet] 2026 Jan 26; Vol. 17, pp. 1751809. Date of Electronic Publication: 2026 Jan 26 (Print Publication: 2026). |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1664-8021 |
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| DOI: | 10.3389/fgene.2026.1751809 |
