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

This study describes monozygotic (MZ) male twins with fragile X syndrome (FXS), mosaic for normal size (NS: <44 CGGs), premutation (PM: 55–199 CGG) and full mutation (FM alleles ≥ 200) alleles, with autism. At 4 years of age chromosomal microarray confirmed monozygosity with both twins showing an...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Pandelache, Alison, Baker, Emma K, Aliaga, Solange M., Arpone, Marta, Forbes, Robin, Stark, Zornitza, Francis, David, Godler, David E.
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6523498/
https://ncbi.nlm.nih.gov/pubmed/30959842
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10040279
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados