Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome

Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome

Mutations of SATB2 (OMIM#608148) gene at 2q33.1 have been associated with the autosomal dominant SATB2-associated syndrome (SAS), which is still short of comprehensive diagnosis technologies for small deletions and low-level mosaicism. In this Chinese Han family, single nucleotide polymorphism array...

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Bibliographic Details
Main Authors: Yeqing Qian, Jiao Liu, Yanmei Yang, Min Chen, Chunlei Jin, Penglong Chen, Yongliang Lei, Hangyi Pan, Minyue Dong
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-07-01
Series:Frontiers in Genetics
Subjects:
SATB2-associated syndrome
chromosome microarray analysis
mosaicism
droplet digital PCR
gap-PCR
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2019.00630/full

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