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0038185363
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Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome
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Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002; 71: 1033-1043.
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van Bokhoven, H.16
Brunner, H.G.17
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The expanding phenotype of POMT1 mutations: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
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Van Reeuwijk J, Maugenre S, van den Elzen C, Verrips A, Bertini E, Muntoni F, Merlini L, Scheffer H, Brunner HG, Guicheney P, van Bokhoven H. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum Mutat 2006; 27: 453-459.
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Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome
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Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, Lagae LG, Al-Gazali LI, Eyaid WM, Enns G, Dobyns WB, Walsh CA. Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome. Am J Med Genet A 2005; 133A: 53-57.
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POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study
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Messina S, Mora M, Pegoraro E, Pini A, Mongini T, D'Amico A, Pane M, Aiello C, Bruno C, Biancheri R, Berardinelli A, Boito C, Farina L, Morandi L, Moroni I, Pezzani R, Pichiecchio A, Ricci E, Ruggieri A, Saredi S, Scuderi C, Tessa A, Toscano A, Tortorella G, Trevisan CP, Uggetti C, Santorelli FM, Bertini E, Mercuri E. POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study. Neuromusc Disord 2008; 18: 565-571.
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Difficulties with prenatal diagnosis of the Walker-Warburg syndrome
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Low ASC, Lee SL, Tan ASA, Chan DKL, Chan LL. Difficulties with prenatal diagnosis of the Walker-Warburg syndrome. Acta Radiol 2005; 46: 645-651.
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First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome
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Blin G, Rabbé A, Ansquer Y, Meghdiche S, Floch-Tudal C, Mandelbrot L. First-trimester ultrasound diagnosis in a recurrent case of Walker-Warburg syndrome. Ultrasound Obstet Gynecol 2005; 26: 297-299.
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Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome
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Chitayat D, Toi A, Babul R, Levin A, Michaud J, Summers A, Rutka J, Blaser S, Becker LE. Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndrome. Am J Med Genet 1995; 56: 351-358.
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Prenatal US and MR imaging findings of lyssencephaly: Review of fetal cerebral sulcal development
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Ghai S, Fong KW, Toi A, Chitayat D, Pantazi S, Blaser S. Prenatal US and MR imaging findings of lyssencephaly: review of fetal cerebral sulcal development. Radiographics 2006; 26: 389-405.
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