A fragile X sibship from a consanguineous family with a compound heterozygous female and partially methylated full mutation male
Am J Med Genet A
.
2012 May;158A(5):1221-4.
doi: 10.1002/ajmg.a.35293.
Epub 2012 Apr 9.
Authors
Page L Sorensen
1
,
Kirin Basuta
,
Guadalupe Mendoza-Morales
,
Louise W Gane
,
Andrea Schneider
,
Randi Hagerman
,
Flora Tassone
Affiliation
1
MIND Institute, University of California at Davis Medical Center, Sacramento, California 95817, USA.
PMID:
22488807
PMCID:
PMC3331966
DOI:
10.1002/ajmg.a.35293
No abstract available
Publication types
Case Reports
Research Support, N.I.H., Extramural
MeSH terms
Child
DNA Methylation
Female
Fragile X Syndrome / genetics*
Heterozygote
Humans
Male
Mutation*
Siblings
Grants and funding
P30 HD002274/HD/NICHD NIH HHS/United States
HD02274/HD/NICHD NIH HHS/United States
P30 HD002274-42S2/HD/NICHD NIH HHS/United States
HD036071/HD/NICHD NIH HHS/United States
R01 HD036071-02/HD/NICHD NIH HHS/United States
R01 HD036071/HD/NICHD NIH HHS/United States