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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

Natalia Klamut,Samantha Bothwell,Alexandra E. Carl,Vaneeta Bamba,Jennifer R. Law,Wendy J. Brickman,Karen O. Klein,Roopa Kanakatti Shankar,Catherina T. Pinnaro,Patricia Y. Fechner,Siddharth K. Prakash,Iris Gutmark-Little,Susan Howell,Nicole Tartaglia,Marybel Good,Kelly C. Ranallo,Shanlee M. Davis

American journal of medical genetics Part A（2024）

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关键词
mosaicism,phenotype,sex chromosome aneuploidy,Trisomy X syndrome,Turner syndrome
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