Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?
A study of X inactivation in 12 female carriers for adrenoleucodystrophy showed no evidence that skewed patterns are related to clinical manifestation. Other possible mechanisms to explain manifestation in females are considered.
Watkiss
E
E
Sub-Department of Clinical Genetics, University of Birmingham, Birmingham Maternity Hospital, Edgbaston, UK.
Webb
T
T
Bundey
S
S
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000328:Adult; D000368:Aged; D004303:Dosage Compensation, Genetic; D005260:Female; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged