5 citations
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August 2014 in “Archivos Argentinos de Pediatria” This report presents a 6-year-old girl with Turner syndrome, suggesting a possible association between Turner syndrome, psoriasis, alopecia areata, and trachyonychia.
2 citations
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August 2014 in “Archivos argentinos de pediatría” This report describes a 6-year-old girl with Turner syndrome and coexisting psoriasis, alopecia areata, and trachyonychia, suggesting a potential link between these conditions.
2 citations
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July 2016 in “Pharmacopsychiatry” This case report describes a non-mosaic Turner-Syndrome individual with global cerebral atrophy, significant cognitive impairment, and severe treatment-resistant schizophrenia.
8 citations
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July 2015 in “Molecular cytogenetics” This case study describes a patient with Turner syndrome who, despite lacking many classic features, presented with multiple autoimmune diseases, suggesting a link between complex X chromosome rearrangements and increased autoimmune risk.
13 citations
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October 2000 in “International Journal of Dermatology” This case report describes a 6-year-old boy with Bloom syndrome characterized by distinct facial skin changes, delayed development, and a high frequency of sister chromatid exchanges.