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Copy Number Variations Are More Frequent on Chromosome 14 as Compared to X Chromosome in Suspected Turner Syndrome Girls - A Chromosomal Microarray Analysis
Introduction: Turner syndrome(TS) is defined by complete/partial monosomy of X chromosome in association with classic clinical manifestations. Conventional karyotyping is the gold standard test for diagnosis of TS. However it is labour intensive and inaccurate for detecting mosaicism, marker chromos...
Autores principales: | Purwar, Naincy, Tiwari, Pradeep, Saxena, Aditya, Mathur, Nitish, Sharma, Himanshu, Sharma, Balram, Mathur, Sandeep Kumar |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089734/ http://dx.doi.org/10.1210/jendso/bvab048.1620 |
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