Pallister–Killian Syndrome versus Trisomy 12p—A Clinical Study of 5 New Cases and a Literature Review

Pallister–Killian syndrome (PKS) is a rare, sporadic disorder defined by a characteristic dysmorphic face, pigmentary skin anomalies, intellectual disability, hypotonia, and seizures caused by 12p tetrasomy due to an extra isochromosome 12p. We present three cases of PKS and two cases of trisomy 12p...

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Bibliografiset tiedot
Julkaisussa:Genes (Basel)
Päätekijät: Arghir, Aurora, Popescu, Roxana, Resmerita, Irina, Budisteanu, Magdalena, Butnariu, Lacramioara Ionela, Gorduza, Eusebiu Vlad, Gramescu, Mihaela, Panzaru, Monica Cristina, Papuc, Sorina Mihaela, Sireteanu, Adriana, Tutulan-Cunita, Andreea, Rusu, Cristina
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI 2021
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC8226674/
https://ncbi.nlm.nih.gov/pubmed/34073526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12060811
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