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