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...

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Detalles Bibliográficos
Autores principales: Rolvien, Tim, Kornak, Uwe, Linke, Stephan J., Amling, Michael, Oheim, Ralf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7415034/
https://www.ncbi.nlm.nih.gov/pubmed/32671420
http://dx.doi.org/10.1007/s00223-020-00721-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7415034/
https://www.ncbi.nlm.nih.gov/pubmed/32671420
http://dx.doi.org/10.1007/s00223-020-00721-3

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