| 1 | BCYM3, CBSMA, CMT2C, METTD, SMDK, SPSMA, TRPV4
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| Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
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| Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S.
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| J Med Genet 47(10):704-9. Epub 2010 Jun 24.PMID: 20577006 2010
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| 2 | METTD, SMDK, TRPV4
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| Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
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| Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S.
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| J Med Genet 47(10):704-9. Epub 2010 Jun 24.
2010
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| 3 | METTD, SMDK, TRPV4
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| Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
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| Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH.
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| Am J Hum Genet 84(3):307-15. Epub 2009 Feb 19.
2009
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