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Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome

Connective tissue diseases, including osteogenesis imperfecta (OI) and Ehlers-Danlos syndrome (EDS), exhibit a high degree of clinical and genetic heterogeneity. We report two sisters with blue sclerae, joint hypermobility and hearing loss. Whole-exome sequencing identified two compound heterozygous...

詳細記述

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書誌詳細
出版年:Calcif Tissue Int
主要な著者: Rolvien, Tim, Kornak, Uwe, Linke, Stephan J., Amling, Michael, Oheim, Ralf
フォーマット: Artigo
言語:Inglês
出版事項: Springer US 2020
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7415034/
https://ncbi.nlm.nih.gov/pubmed/32671420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00223-020-00721-3
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