These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
10. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. 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. Hum Mutat; 2006 May; 27(5):453-9. PubMed ID: 16575835 [Abstract] [Full Text] [Related]
12. 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. Czeschik JC, Hehr U, Hartmann B, Lüdecke HJ, Rosenbaum T, Schweiger B, Wieczorek D. Eur J Med Genet; 2013 Dec; 56(12):689-94. PubMed ID: 24120487 [Abstract] [Full Text] [Related]
13. Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation. Yang H, Manya H, Kobayashi K, Jiao H, Fu X, Xiao J, Li X, Wang J, Jiang Y, Toda T, Endo T, Wu X, Xiong H. J Hum Genet; 2016 Aug; 61(8):753-9. PubMed ID: 27193224 [Abstract] [Full Text] [Related]
19. [Recent Advances in α-dystroglycanopathy]. Kuga A, Kanagawa M, Toda T. Brain Nerve; 2011 Nov; 63(11):1189-95. PubMed ID: 22068471 [Abstract] [Full Text] [Related]