Φορτώνει......
A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9
Campomelic dysplasia is a rare skeletal dysplasia characterized by Pierre Robin sequence, craniofacial dysmorphism, shortening and angulation of long bones, tracheobronchomalacia, and occasionally sex reversal. The disease is due to mutations in SOX9 or chromosomal rearrangements involving the long...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Cold Spring Harb Mol Case Stud |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Cold Spring Harbor Laboratory Press
2018
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5983176/ https://ncbi.nlm.nih.gov/pubmed/29695406 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002766 |
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