Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples

BACKGROUND: Pallister-Killian syndrome (PKS) (OMIM:#601803) is a rare sporadic genetic disorder characterized by multi-malformations which is caused by the presence of the extra isochromosome 12p. PKS is featured by the tissue-limited mosaicism of the isochromosome 12p [i(12p)]. There were a wide sp...

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Detalles Bibliográficos
Autores principales: Wang, Ting, Ren, Congmian, Chen, Dan, Lu, Jian, Guo, Li, Zheng, Laiping, Liu, Yuan, Chen, Hanbiao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6717365/
https://www.ncbi.nlm.nih.gov/pubmed/31497069
http://dx.doi.org/10.1186/s13039-019-0449-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6717365/
https://www.ncbi.nlm.nih.gov/pubmed/31497069
http://dx.doi.org/10.1186/s13039-019-0449-x

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