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Parthenogenetic chimaerism/mosaicism with a Silver-Russell syndrome-like phenotype
INTRODUCTION: We report a 34-year-old Japanese female with a Silver-Russell syndrome (SRS)-like phenotype and a mosaic Turner syndrome karyotype (45,X/46,XX). METHODS/RESULTS: Molecular studies including methylation analysis of 17 differentially methylated regions (DMRs) on the autosomes and the XIS...
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| 主要な著者: | , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BMJ Group
2010
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2976035/ https://ncbi.nlm.nih.gov/pubmed/20685670 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2010.079343 |
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