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Journal article

Maroofian, Reza; Riemersma, Moniek; Jae, Lucas T.; Zhianabed, Narges; Willemsen, Marjolein H.; Wissink-Lindhout, Willemijn M.; Willemsen, Michel A.; Brouwer, Arjan P. M. de; Mehrjardi, Mohammad Yahya Vahidi; Ashrafi, Mahmoud Reza; Kusters, Benno; Kleefstra, Tjitske; Jamshidi, Yalda; Nasseri, Mojila; Pfundt, Rolph; Brummelkamp, Thijn R.; Abbaszadegan, Mohammad Reza; Lefeber, Dirk J. und Bokhoven, Hans van (2017): B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. In: Genome Medicine 9:118 [PDF, 1MB]

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