PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620520
Title:
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Authors:
Reijnders, M. R. F. [et al]; Rankin, Julia
Abstract:
De novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia.
Citation:
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 2017 J. Med. Genet.
Publisher:
BMJ
Journal:
Journal of Medical Genetics
Issue Date:
2-Nov-2017
URI:
http://hdl.handle.net/11287/620520
DOI:
10.1136/jmedgenet-2017-104946
PubMed ID:
29097605
Additional Links:
http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=29097605
Note:
This article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.
Type:
Journal Article
Language:
en
ISSN:
1468-6244
Appears in Collections:
Clinical Genetics (Peninsula Genetics); 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorReijnders, M. R. F. [et al]en
dc.contributor.authorRankin, Juliaen
dc.date.accessioned2017-11-21T12:09:05Z-
dc.date.available2017-11-21T12:09:05Z-
dc.date.issued2017-11-02-
dc.identifier.citationPURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 2017 J. Med. Genet.en
dc.identifier.issn1468-6244-
dc.identifier.pmid29097605-
dc.identifier.doi10.1136/jmedgenet-2017-104946-
dc.identifier.urihttp://hdl.handle.net/11287/620520-
dc.description.abstractDe novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia.en
dc.language.isoenen
dc.publisherBMJen
dc.relation.urlhttp://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=29097605en
dc.rightsArchived with thanks to Journal of Medical Genetics. This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/ licenses/by-nc/4.0/en
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titlePURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.en
dc.typeJournal Articleen
dc.identifier.journalJournal of Medical Geneticsen
dc.description.noteThis article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.en
dc.type.versionIn press (epub ahead of print)en

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