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Pallister-Killian Mosaic Syndrome in an Omani Newborn: A Case Report and Literature Review
Pallister-Killian mosaic syndrome (PKS) is a rare sporadic condition with multiple congenital anomalies and intellectual deficits caused by mosaic tissue-limited tetrasomy of the short arm of chromosome 12 (12p). The clinical features are highly variable, ranging from mild to severe. Diagnosis is us...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
OMJ
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6505352/ https://www.ncbi.nlm.nih.gov/pubmed/31110634 http://dx.doi.org/10.5001/omj.2019.47 |