Učitavanje...
Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years
Aims: Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder. The aim of this study was to review ZNF469 mutations associated with BCS type 1 to date and to describe an additional case of Czech/Polish background. Methods: Whole genome sequencing was undertaken to identify the molecular...
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| Glavni autori: | , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Palacký University Olomouc, Faculty of Medicine and Dentistry
2020-06-01
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| Serija: | Biomedical Papers |
| Teme: | |
| Online pristup: | https://biomed.papers.upol.cz/artkey/bio-202002-0010_brittle-cornea-syndrome-disease-causing-mutations-in-znf469-and-two-novel-variants-identified-in-a-patient-fol.php |
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