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"
Short rib – polydactyly syndrome
SpecialtyMedical genetics 

References

  1. 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.
Classification


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