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Novel variants in CDH2 are associated with a new syndrome including Peters anomaly
Peters anomaly (PA) is a congenital corneal opacity associated with corneo-lenticular attachments. PA can be isolated or part of a syndrome with most cases remaining genetically unsolved. Exome sequencing of a trio with syndromic PA and 145 additional unexplained probands with developmental ocular c...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Clin Genet |
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| Κύριοι συγγραφείς: | , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2019
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7028510/ https://ncbi.nlm.nih.gov/pubmed/31650526 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13660 |
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