Pallister-Killian syndrome: a study of 22 British patients

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 indiv...

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Bibliographic Details
Main Authors: Blyth, M. (Author), Maloney, V. (Author), Beal, S. (Author), Collinson, M. (Author), Huang, S. (Author), Crolla, J. (Author), Temple, I. K. (Author), Baralle, D. (Author)
Format: Article
Language:English
Published: 2015-07.
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