A recent study highlights the role of somatic mosaicism and skewed X-chromosome inactivation in a female patient exhibiting a male-pattern choroideremia phenotype. This research could enhance understanding of the genetic mechanisms underlying choroideremia.
somatic mosaicism and skewed x chromosome inactivation associated with male pattern choroideremia phenotype in a female patient
Original title: “Somatic mosaicism and skewed X-chromosome inactivation associated with male-pattern choroideremia phenotype in a female patient.”