Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
About this item
Full title
Author / Creator
Publisher
London: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
BackgroundThis study reports on a hitherto undescribed autosomal recessive syndrome characterised by dysmorphic features and multiple congenital anomalies together with severe neurological impairment, chorea and seizures leading to early death, and the identification of a gene involved in the pathogenesis of the disease.MethodsHomozygosity mapping...
Alternative Titles
Full title
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_868996948
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_868996948
Other Identifiers
ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg.2010.087114
