Article
Pierpont syndrome: a collaborative study.
American journal of medical genetics. Part A - 1 Sept 2011
Wright Emma M M Burkitt, Suri Mohnish, White Susan M, de Leeuw Nicole, Vulto-van Silfhout Anneke T, Stewart Fiona, McKee Shane, Mansour Sahar, Connell Fiona C, Chopra Maya, Kirk Edwin P, Devriendt Koen, Reardon Willie, Brunner Han, Donnai Dian
Abstract excerpt
Pierpont syndrome is a multiple congenital anomaly syndrome with learning disability first described in 1998. There are only three patients with Pierpont syndrome who have previously been published in the literature. Details of a series of patients with features of this condition were therefore obtained retrospectively to better characterize its key features. These patients were noted to have distinctive shared...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.