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

R Maroofian, M Riemersma, LT Jae, N Zhianabed… – Genome Medicine, (2017) B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype–phenotype associations in the muscular …… This was followed by whole exome sequencing (WES) of genomic DNA from proband (V:2) performed at Otogenetics Corporation (Norcross, GA, USA) using the Agilent SureSelect Human All ExonV4 (51 Mb) enrichment kit with a paired-end (2 × 100)