Homozygous mutation in ABCA4 associated with cone rod dystrophy in a patient with Turner syndrome.
La Tunisie medicale(2021)
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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