Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXX

by Alison Pandelache, David Francis, Ralph Oertel, Rebecca Dickson, Rani Sachdev, Ling Ling, Dinusha Gamage, David E. Godler
Published 2021-05-01

Clinical and Molecular Differences between 4-Year-Old Monozygous Male Twins Mosaic for Normal, Premutation and Fragile X Full Mutation Alleles

by Alison Pandelache, Emma K Baker, Solange M. Aliaga, Marta Arpone, Robin Forbes, Zornitza Stark, David Francis, David E. Godler
Published 2019-04-01