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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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書誌詳細
主要な著者: Yamazawa, K, Nakabayashi, K, Kagami, M, Sato, T, Saitoh, S, Horikawa, R, Hizuka, N, Ogata, T
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2010
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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