Clinical Variability of Pallister-Killian Syndrome in Two Egyptian Patients.
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DOI: 10.1055/s-0039-3400489
Abstract: Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder caused by a mosaic tetrasomy of chromosome 12p, which mainly manifests with craniofacial dysmorphism, intellectual disability (ID), auditory disturbance, epilepsy, and a variety of congenital malformations.… read more here.
Keywords: killian syndrome; clinical variability; variability pallister; pallister killian ... See more keywords