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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...
Tallennettuna:
| Julkaisussa: | Genes (Basel) |
|---|---|
| Päätekijät: | , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
MDPI
2021
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| Aiheet: | |
| 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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