The US FDA’s proposed rule on laboratory-developed tests: Impacts on clinical laboratory testing
| Short rib–polydactyly syndrome | |
|---|---|
| Specialty | Medical genetics  |
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
- ^ Merrill AE, Merriman B, Farrington-Rock C, et al. (April 2009). "Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome". Am. J. Hum. Genet. 84 (4): 542–9. doi:10.1016/j.ajhg.2009.03.015. PMC 2667993. PMID 19361615.
External links
