Mosaic UPD(7q)mat in a patient with silver Russell syndrome

Mosaic UPD(7q)mat in a patient with silver Russell syndrome

Abstract 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...

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Bibliographic Details
Main Authors: Jiasun Su, Jin Wang, Xin Fan, Chunyun Fu, ShuJie Zhang, Yue Zhang, Zailong Qin, Hongdou Li, Jingsi Luo, Chuan Li, Tingting Jiang, Yiping Shen
Format: Article
Language:English
Published: BMC 2017-10-01
Series:Molecular Cytogenetics
Subjects:
Silver-Russell syndrome
Maternal uniparental disomy
Mosaicism
Online Access:http://link.springer.com/article/10.1186/s13039-017-0337-1

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