Tabolacci, Elisabetta

Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation. [electronic resource] - European journal of human genetics : EJHG 05 2020 - 567-575 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1476-5438

10.1038/s41431-019-0554-7 doi


Adolescent
Adult
Child
DNA Methylation
Epigenesis, Genetic
Female
Fragile X Mental Retardation Protein--genetics
Fragile X Syndrome--genetics
Humans
Male
Pedigree
Phenotype
Trinucleotide Repeat Expansion
X Chromosome Inactivation