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...

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Vydáno v:Oman Med J
Hlavní autoři: Elsheikh, Afaf, Al Shehhi, Maryam, Goud, Tadakal Mallana, Itoo, Bashir, Al Harasi, Salma
Médium: Artigo
Jazyk:Inglês
Vydáno: OMJ 2019
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6505352/
https://ncbi.nlm.nih.gov/pubmed/31110634
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5001/omj.2019.47
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