Short rib – polydactyly syndrome
Short rib – polydactyly syndrome | |
---|---|
Classification and external resources | |
Specialty | medical genetics |
ICD-10 | Q77.2 |
ICD-9-CM | 756.5 |
OMIM | 263530 263520 263510 269860 |
DiseasesDB |
3279232795 |
MeSH | C05.116.099.708.857 |
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. PMC 2667993 . PMID 19361615. doi:10.1016/j.ajhg.2009.03.015.
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