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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.
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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  Data: Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia.
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  Data: <searchLink fieldCode="AU" term="%22Lee+CL%22">Lee CL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Chuang+CK%22">Chuang CK</searchLink>; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.; College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chiu+HC%22">Chiu HC</searchLink>; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Chang+YH%22">Chang YH</searchLink>; Department of Pediatrics, MacKay Memorial Hospital, Taipei, Taiwan.; International Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Tu+YR%22">Tu YR</searchLink>; Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lo+YT%22">Lo YT</searchLink>; International Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Wu+JY%22">Wu JY</searchLink>; International Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan.<br /><searchLink fieldCode="AU" term="%22Lin+HY%22">Lin HY</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lin+SP%22">Lin SP</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101560621%22">Frontiers in genetics</searchLink> [Front Genet] 2026 Jan 26; Vol. 17, pp. 1751809. <i>Date of Electronic Publication: </i>2026 Jan 26 (<i>Print Publication: </i>2026).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101560621 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1664-8021 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216648021%22">16648021 </searchLink><i>NLM ISO Abbreviation: </i>Front Genet <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.3389/fgene.2026.1751809
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        Text: English
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            – D: 26
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              Text: 2026 Jan 26
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