A review of structural brain abnormalities in Pallister ‐Killian syndrome
ConclusionOur study reinforces the association between brain abnormalities and PKS, and documents a diverse neurogenetic basis for structural brain abnormalities and impaired function in children diagnosed with this rare disorder.
We report two cases of Pallister‐Killian Syndrome, and conducted a literature review to describe a diverse neuropathological basis for impaired brain function in children diagnosed with this rare disorder.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Cathryn Poulton, Gareth Baynam, Clarissa Yates, Hamid Alinejad ‐Rokny, Simon Williams, Helen Wright, Karen J. Woodward, Soruba Sivamoorthy, Joanne Peverall, Peter Shipman, David Ravine, John Beilby, Julian Ik‐Tsen Heng Tags: ORIGINAL ARTICLE Source Type: research