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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Detalles Bibliográficos
Autores principales: Yamazawa, K, Nakabayashi, K, Kagami, M, Sato, T, Saitoh, S, Horikawa, R, Hizuka, N, Ogata, T
Formato: Texto
Lenguaje:English
Publicado: BMJ Group 2010
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2976035/
https://www.ncbi.nlm.nih.gov/pubmed/20685670
http://dx.doi.org/10.1136/jmg.2010.079343

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2976035/
https://www.ncbi.nlm.nih.gov/pubmed/20685670
http://dx.doi.org/10.1136/jmg.2010.079343

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