@article{24441d4254ca4be28a8600aaf4f14e62,
title = "A patient with Phelan-McDermid syndrome and dilation of the great vessels",
abstract = "We present a patient with Phelan-McDermid syndrome, a rare neurodevelopmental disorder caused by a 22q13 deletion, with the previously undescribed finding of progressive dilation of the great arteries. While congenital heart defects have been identified in patients previously, dilation of the great arteries has not been described to our knowledge.",
keywords = "22q13 deletion, 9q34 duplication, COL5A1 gene, Phelan-McDermid syndrome, SHANK3 gene, aortic dilation, vasculopathy",
author = "Emily Deibert and Melissa Crenshaw and Miller, {Michelle S.}",
note = "Funding Information: ac.uk and via email from decipher@sanger.ac.uk. Funding for the project was provided by the Wellcome Trust. Those who carried out the original analysis and collection of the data bear no responsibility for the further analysis or interpretation of it by the recipient or its registered users. We would like to acknowledge Dr. Jesper Graakjaer, Clinical Genetics Department, Vejle Hospital, Vejle, Denmark, Dr. Antonio Novelli, Ospedale Pediatrico del Bambino Ges{\'u}, Rome, Italy, and Dr. Olivier Vanakker, Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium, for their contributions to DECIPHER and for kindly allowing us to include their cases in our report. We thank the patient and family for their cooperation. Publisher Copyright: {\textcopyright} 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.",
year = "2019",
month = apr,
doi = "10.1002/ccr3.2003",
language = "English (US)",
volume = "7",
pages = "607--611",
journal = "Clinical Case Reports",
issn = "2050-0904",
publisher = "John Wiley and Sons Ltd",
number = "4",
}