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Prenatal diagnosis of Pallister‐Killian syndrome and literature review

Pallister‐Killian syndrome (PKS) is a rare sporadic genetic disorder usually caused by mosaicism of an extra isochromosome of 12p (i(12p)). This retrospective study analysed the prenatal ultrasound manifestations and molecular and cytogenetic results of five PKS foetuses. Samples of amniotic fluid a...

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Detalles Bibliográficos
Autores principales:	Wu, Xiaoqing, Xie, Xiaorui, Su, Linjuan, Lin, Na, Liang, Bin, Guo, Nan, Chen, Qingquan, Xu, Liangpu, Huang, Hailong
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8435413/ https://www.ncbi.nlm.nih.gov/pubmed/34405543 http://dx.doi.org/10.1111/jcmm.16853

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