| 1 | ISPD, TMEM5, WLKWS1, WLKWS2, WLKWS3, WLKWS4, WLKWS5, WLKWS7, WLKWS8
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| Identification of Mutations in TMEM5 and ISPD as a Cause of Severe Cobblestone Lissencephaly.
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| Vuillaumier-Barrot S, Bouchet-Séraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerrière A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonnière M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attié-Bitach T, Encha-Razavi F, Seta N.
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| Am J Hum Genet 91(6):1135-43. doi: 10.1016/j.ajhg.2012.10.009.
2012
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| 2 | FKRP, WLKWS5
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| A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
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| Van Reeuwijk J, Olderode-Berends MJ, Van den Elzen C, Brouwer OF, Roscioli T, Van Pampus MG, Scheffer H, Brunner HG, Van Bokhoven H, Hol FA.
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| Clin Genet 78(3):275-81. Epub 2010 Feb 11. 2010
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| 3 | FKRP, LGMD2I, MDC1C, WLKWS5
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| Mutations alter secretion of fukutin-related protein.
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| Lu PJ, Zillmer A, Wu X, Lochmuller H, Vachris J, Blake D, Chan YM, Lu QL.
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| Biochim Biophys Acta 1802(2):253-8. Epub 2009 Nov 10.
2010
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| 4 | FKRP, WLKWS5
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| A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum.
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| Van Reeuwijk J, Olderode-Berends MJ, Van den Elzen C, Brouwer OF, Roscioli T, Van Pampus MG, Scheffer H, Brunner HG, Van Bokhoven H, Hol FA.
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| Clin Genet 78(3):275-81. Epub 2010 Feb 11.
2010
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| 5 | FKRP, WLKWS4, WLKWS5
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| Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.
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| Beltran-Valero de Bernabé D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F.
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| J Med Genet 41(5):e61. No abstract available. 2004
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