GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
Titel:
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome
Auteur:
LaCroix, Amy J. Stabley, Deborah Sahraoui, Rebecca Adam, Margaret P. Mehaffey, Michele Kernan, Kelly Myers, Candace T. Fagerstrom, Carrie Anadiotis, George Akkari, Yassmine M. Robbins, Katherine M. Gripp, Karen W. Baratela, Wagner A.R. Bober, Michael B. Duker, Angela L. Doherty, Dan Dempsey, Jennifer C. Miller, Daniel G. Kircher, Martin Bamshad, Michael J. Nickerson, Deborah A. Mefford, Heather C. Sol-Church, Katia