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http://repositorio.unicamp.br/jspui/handle/REPOSIP/353598
| Type: | Outros documentos |
| Title: | Beemer-langer syndrome is a ciliopathy due to biallelic mutations in IFT122 |
| Author: | Silveira, Karina C. Moreno, Carolina A. Cavalcanti, Denise P. |
| Abstract: | Since most short-rib polydactyly phenotypes are due to genes involved with biogenesis and maintenance of the primary cilium, this group of skeletal dysplasias was recently designated as ciliopathies with major skeletal involvement. Beemer-Langer syndrome |
| Subject: | Edema Edema |
| Country: | Estados Unidos |
| Editor: | John Wiley & Sons |
| Rights: | Fechado |
| Identifier DOI: | 10.1002/ajmg.a.38157 |
| Address: | https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.a.38157 |
| Date Issue: | 2017 |
| Appears in Collections: | FCM - Artigos e Outros Documentos |
Files in This Item:
| File | Size | Format | |
|---|---|---|---|
| 000399691500008.pdf | 776.85 kB | Adobe PDF | View/Open |
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