Search Results - "Klamut, Natalia"
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An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy X
Published in American journal of medical genetics. Part C, Seminars in medical genetics (05-03-2024)“…Despite affecting in 1 in every 1000 females, remarkably little is known about trisomy X syndrome (47,XXX), especially among older adults who are undiagnosed…”
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Journal Article -
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Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry
Published in American journal of medical genetics. Part A (01-12-2024)“…Turner syndrome (TS) is defined by partial or complete absence of a sex chromosome. Little is known about the phenotype of individuals with TS mosaic with…”
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Journal Article