B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies

Reza Maroofian, Moniek Riemersma, Lucas T. Jae, Narges Zhianabed, Marjolein H. Willemsen, Willemijn M. Wissink-Lindhout, Michel A. Willemsen, Arjan P. M. de Brouwer, Mohammad Yahya Vahidi Mehrjardi, Mahmoud Reza Ashrafi, Benno Kusters, Tjitske Kleefstra, Yalda Jamshidi, Mojila Nasseri, Rolph Pfundt, Thijn R. Brummelkamp, Mohammad Reza Abbaszadegan, Dirk J. Lefeber, Hans van Bokhoven*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number118
Number of pages11
JournalGenome Medicine
Volume9
DOIs
Publication statusPublished - 22 Dec 2017

Keywords

  • Dystroglycan
  • B3GALNT2
  • Muscular dystrophy-dystroglycanopathy syndrome
  • Intellectual disability
  • Epilepsy
  • VIRUS ENTRY
  • SPECTRUM
  • VARIANT

Cite this

Maroofian, R., Riemersma, M., Jae, L. T., Zhianabed, N., Willemsen, M. H., Wissink-Lindhout, W. M., Willemsen, M. A., de Brouwer, A. P. M., Mehrjardi, M. Y. V., Ashrafi, M. R., Kusters, B., Kleefstra, T., Jamshidi, Y., Nasseri, M., Pfundt, R., Brummelkamp, T. R., Abbaszadegan, M. R., Lefeber, D. J., & van Bokhoven, H. (2017). B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome Medicine, 9, [118]. https://doi.org/10.1186/s13073-017-0505-2