Skip to Main Content

Paper Details

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome.
Am J Hum Genet
63
2019
3, BSS, Baratela-Scott Syndrome, Baratela-Scott syndrome, Bisulfite, Exon 1, GGC repeat, XYLT1, XYLT1 allele, XYLT1 promoter region, alleles, autosomal-recessive disorder, developmental delay, exon 1, facial dysmorphisms, fibroblasts, genetic disorders, hypermethylated allele, methylated, methylated XYLT1 allele, reference genome, sequence variant, short stature, skeletal dysplasia, trinucleotide repeat, trinucleotide repeat expansion disorder
Author NameAffiliation
Deborah L StableyAlfred I. duPont Hospital for Children
Yassmine Akkari
Katherine M RobbinsAlfred I. duPont Hospital for Children
Michael B BoberAlfred I. duPont Hospital for Children
Angela L DukerAlfred I. duPont Hospital for Children
Dan DohertyUniversity of Washington, USA Brotman Baty Institute for Precision Medicine
Martin KircherUniversity of Washington
Michael J BamshadUniversity of Washington, USA Brotman Baty Institute for Precision Medicine
Michael J BamshadUniversity of Washington, USA Brotman Baty Institute for Precision Medicine
Deborah A NickersonBrotman Baty Institute for Precision Medicine, University of Washington
Deborah A NickersonBrotman Baty Institute for Precision Medicine, University of Washington
Katia Sol-ChurchAlfred I. duPont Hospital for Children, University of Virginia School of Medicine
  • 1 - 12

Datasets

Release 1.2