Φορτώνει......
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4
BACKGROUND: Coffin–Siris syndrome (CSS) is characterized by intellectual disability, dysmorphic facial features, growth deficiency, microcephaly, and abnormalities of the fifth fingers/toes. CSS is caused by mutations in several genes of the BRG1‐associated factor pathway including SMARCA4. METHODS:...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Genet Genomic Med |
|---|---|
| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
John Wiley and Sons Inc.
2019
|
| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6565552/ https://ncbi.nlm.nih.gov/pubmed/30973214 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.682 |
| Ετικέτες: |
Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|