Á lódáil...
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...
Na minha lista:
| Foilsithe in: | Calcif Tissue Int |
|---|---|
| Main Authors: | , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Springer US
2020
|
| Ábhair: | |
| Rochtain Ar Líne: | 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 |
| Clibeanna: |
Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!
|