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J Med Genet. 1993 August; 30(8): 651–654.
PMCID: PMC1016492

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.

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Selected References

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