Short rib–polydactyly syndrome
| Short rib–polydactyly syndrome | |
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| Short rib polydactyly syndrome - type 2-Indentation of upper lip, flattened nose, micrognathia, narrow thorax | |
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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
- ↑ 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
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