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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Cytogenet
Prif Awduron: Wang, Ting, Ren, Congmian, Chen, Dan, Lu, Jian, Guo, Li, Zheng, Laiping, Liu, Yuan, Chen, Hanbiao
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2019
Pynciau:
Research
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6717365/
https://ncbi.nlm.nih.gov/pubmed/31497069
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-019-0449-x
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg