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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Detalles Bibliográficos
Autores principales: Qian, Yeqing, Liu, Jiao, Yang, Yanmei, Chen, Min, Jin, Chunlei, Chen, Penglong, Lei, Yongliang, Pan, Hangyi, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6614923/
https://www.ncbi.nlm.nih.gov/pubmed/31333717
http://dx.doi.org/10.3389/fgene.2019.00630

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6614923/
https://www.ncbi.nlm.nih.gov/pubmed/31333717
http://dx.doi.org/10.3389/fgene.2019.00630

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