Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Cited by 37 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Clinical practice guidelines for the care of girls and women with Turner syndrome;European Journal of Endocrinology;2024-05-15
2. Detection of 45,X/46,X,r(X)(p11.3q22.1) in a 17-year-old girl with secondary amenorrhea, short stature and normal intelligence;Taiwanese Journal of Obstetrics and Gynecology;2024-01
3. Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X;Genes;2023-01-18
4. Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome;Molecular Cytogenetics;2022-03-31
5. Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata;Clinical Dysmorphology;2022-03-07
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