Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.

La Tunisie medicale(2021)

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摘要
Several ocular disorders are known to be associated with Turner syndrome, however, in this case, we hypothesize that CRD is not related to Turner syndrome but may be a manifestation of the lack of a normal X chromosome with ABCA4 mutation.
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