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Pallister Killian syndrome

Pallister Killian mosaic syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Pallister Killian syndrome" returned 3 free, full-text review articles. First few results:
Neuroimaging findings in Pallister-Killian syndrome.
Last Updated: Aug 02, 2019

Pallister-Killian syndrome (PKS) is a rare chromosomal duplication disorder caused by additional copies of the short arm of chromosome 12 (12p). Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well ...

A review of structural brain abnormalities in Pallister-Killian syndrome.
Last Updated: Nov 13, 2018

Pallister-Killian syndrome (PKS) is a rare multisystem developmental syndrome usually caused by mosaic tetrasomy of chromosome 12p that is known to be associated with neurological defects.

[Prenatal and clinicopathological study of 6 cases of Pallister-Killian syndrome and review].
Last Updated: Jan 26, 2017

In multidisciplinary prenatal diagnosis centers, the search for a tetrasomy 12p mosaic is requested following the discovery of a diaphragmatic hernia in the antenatal period. Thus, the series of Pallister Killian syndromes (PKS: OMIM 601803) probably overestimate the prevalence of ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Pallister Killian syndrome" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Pallister Killian syndrome" returned 24 free, full-text research articles. First few results:
Prenatal diagnosis of Pallister-Killian syndrome in pregnancy with normal CVS result and abnormal ultrasound findings in the second trimester.
Last Updated: Jan 17, 2019

To highlight importance of detailed ultrasound examination in fetuses with known normal karyotype (and micro-array result) from CVS. In case of markedly abnormal ultrasound result repeated karyotyping by amniocentesis should be considered. Sample should be analyzed by routine cytogenetic ...

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24 Free Research Articles 118 Research Articles