Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
| Autor: | Kivelä TT; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland tero.kivela@helsinki.fi., Lisch W; Department of Ophthalmology, Johannes Gutenberg University Mainz, Mainz, Germany., Weiss JE; Departments of Ophthalmology, Pathology and Pharmacology, Louisiana State University Health Sciences Center, New Orleans, Louisiana, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Journal of medical genetics [J Med Genet] 2024 Sep 24; Vol. 61 (10), pp. 982. Date of Electronic Publication: 2024 Sep 24. |
| DOI: | 10.1136/jmg-2024-110310 |
| Abstrakt: | Competing Interests: Competing interests: None declared. |
| Databáze: | MEDLINE |
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