In April 2016 Manchester eScholar was replaced by the University of Manchester’s new Research Information Management System, Pure. In the autumn the University’s research outputs will be available to search and browse via a new Research Portal. Until then the University’s full publication record can be accessed via a temporary portal and the old eScholar content is available to search and browse via this archive.

Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome.

Sakthivel, Muthukumar; Hughes, Stephen M; Riley, Phil; Arkwright, Peter D; Mukherjee, Anindya; Ramsden, Simon; Urquhart, Jill; Crow, Yanick J

American journal of medical genetics. Part A. 2011;.

Access to files

Full-text and supplementary files are not available from Manchester eScholar. Full-text is available externally using the following links:

Full-text held externally

Abstract

The panniculitides are a group of heterogeneous inflammatory diseases involving the subcutaneous fat, the pathogenesis of which is poorly understood. Here, we report on a female infant with Prader-Willi syndrome who developed a systemic inflammatory disorder in the neonatal period demonstrating recurrent panniculitis as a prominent feature. This is the second report of an association between Prader-Willi syndrome and panniculitis. Such an association might be explained by the unmasking of a recessive allele as a consequence of hemizygosity, in the case of a 15q11 deletion, or homozygosity, in the case of maternal isodisomy. © 2011 Wiley Periodicals, Inc.

Bibliographic metadata

Type of resource:
Content type:
Publication type:
Published date:
Abbreviated journal title:
ISSN:
Digital Object Identifier:
10.1002/ajmg.a.34318
Pubmed Identifier:
22052851
Access state:
Active

Institutional metadata

University researcher(s):

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:136302
Created by:
Crow, Yanick
Created:
13th November, 2011, 17:36:04
Last modified by:
Crow, Yanick
Last modified:
13th November, 2011, 17:36:04

Can we help?

The library chat service will be available from 11am-3pm Monday to Friday (excluding Bank Holidays). You can also email your enquiry to us.