Short rib–polydactyly syndrome
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Medical condition
Short rib–polydactyly syndrome | |
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Specialty | Medical genetics |
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[edit]
- ^ 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[edit]
Classification |
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Cytoskeletal defects | |||||||||||||||
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Microfilaments |
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IF |
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Microtubules |
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Membrane | |||||||||||||||
Catenin | |||||||||||||||
Other | |||||||||||||||
Related topics: Cytoskeletal proteins |
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