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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226674/
https://www.ncbi.nlm.nih.gov/pubmed/34073526
http://dx.doi.org/10.3390/genes12060811

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8226674/
https://www.ncbi.nlm.nih.gov/pubmed/34073526
http://dx.doi.org/10.3390/genes12060811

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