1 | KSTS, ROGDI
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| Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity.
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| Tucci A, Kara E, Schossig A, Wolf NI, Plagnol V, Fawcett K, Paisán-Ruiz C, Moore M, Hernandez D, Musumeci S, Tennison M, Hennekam R, Palmeri S, Malandrini A, Raskin S, Donnai D, Hennig C, Tzschach A, Hordijk R, Bast T, Wimmer K, Lo CN, Shorvon S, Mefford H, Eichler EE, Hall R, Hayes I, Hardy J, Singleton A, Zschocke J, Houlden H.
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| Hum Mutat 34(2):296-300. doi: 10.1002/humu.22241. Epub 2012 Nov 27.
2013
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2 | KSTS, ROGDI
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| Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome.
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| Schossig A, Wolf NI, Fischer C, Fischer M, Stocker G, Pabinger S, Dander A, Steiner B, Tönz O, Kotzot D, Haberlandt E, Amberger A, Burwinkel B, Wimmer K, Fauth C, Grond-Ginsbach C, Koch MJ, Deichmann A, von Kalle C, Bartram CR, Kohlschütter A, Trajanoski Z, Zschocke J.
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| Am J Hum Genet 90(4):701-7. Epub 2012 Mar 15.
2012
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3 | KSTS, ROGDI
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| A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter-Tonz Syndrome.
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| Mory A, Dagan E, Illi B, Duquesnoy P, Mordechai S, Shahor I, Romani S, Hawash-Moustafa N, Mandel H, Valente EM, Amselem S, Gershoni-Baruch R.
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| Am J Hum Genet 90(4):708-14.
2012
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