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Mosaic UPD(7q)mat in a patient with silver Russell syndrome
BACKGROUND: Silver-Russell syndrome (SRS) is one of the imprinting disorders characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. ~ 10% of SRS cases are known to be associated with maternal uniparental disomy of chromos...
Autores principales: | Su, Jiasun, Wang, Jin, Fan, Xin, Fu, Chunyun, Zhang, ShuJie, Zhang, Yue, Qin, Zailong, Li, Hongdou, Luo, Jingsi, Li, Chuan, Jiang, Tingting, Shen, Yiping |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5645907/ https://www.ncbi.nlm.nih.gov/pubmed/29075327 http://dx.doi.org/10.1186/s13039-017-0337-1 |
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