Short rib–polydactyly syndrome - Wikiwand

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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"

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Short rib–polydactyly syndrome
Specialty	Medical genetics

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[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.

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