Medicine:Short rib – polydactyly syndrome
From HandWiki
| Short rib – polydactyly syndrome |
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Short rib – polydactyly syndrome is a family of four closely related dysplasias:
- I - "Saldino-Noonan type"
- II - "Majewski type"
- III - "Verma-Naumoff type" (associated with DYNC2H1)[1]
- IV - "Beemer-Langer type"
References
- ↑ "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. April 2009. doi:10.1016/j.ajhg.2009.03.015. PMID 19361615. PMC 2667993. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(09)00112-8.
External links
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