Fragile X syndrome in a girl with variant Turner syndrome and an isodicentric X chromosome
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DOI: 10.1136/bcr-2021-247901
Abstract: Fragile X (FXS) and Turner (TS) syndromes are X-chromosome-associated disorders. Herein, we report the case of a girl in middle childhood with bicuspid aortic valve in infancy, growth failure, global developmental delay (GDD), visual problems,… read more here.
Keywords: fragile syndrome; turner syndrome; turner; syndrome girl ... See more keywords