Article
Pallister-Killian syndrome: a study of 22 British patients.
Journal of medical genetics - 1 Jul 2015
Blyth Moira, Maloney Viv, Beal Sarah, Collinson Morag, Huang Shuwen, Crolla John, Temple I Karen, Baralle Diana
Abstract excerpt
BACKGROUND: Pallister-Killian syndrome is a rare, sporadic condition caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). The main features are intellectual disability, seizures, dysmorphic features and a variety of congenital malformations. Most available information comes from individual case reports. We report the results of a British study into Pallister-Killian syndrome, which is the first to...
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