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Short rib–polydactyly syndrome

Topic: Medicine

 From HandWiki - Reading time: 1 min
Short rib–polydactyly syndrome

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

  1. ↑ "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. 

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