De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia.

2.50
Hdl Handle:
http://hdl.handle.net/11287/620255
Title:
De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia.
Authors:
Rawlins, Lettie E.; Stals, Karen; Eason, J. D.; Turnpenny, Peter D.
Citation:
De novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia. 2017, 26 (2):95-97 Clin. Dysmorphol.
Publisher:
Wolters Kluwer
Journal:
Clinical Dysmorphology
Issue Date:
Apr-2017
URI:
http://hdl.handle.net/11287/620255
DOI:
10.1097/MCD.0000000000000144
PubMed ID:
28263952
Additional Links:
http://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=0962-8827&volume=26&issue=2&spage=95
Type:
Journal Article
Language:
en
ISSN:
1473-5717
Appears in Collections:
Clinical Genetics (Peninsula Genetics); Molecular Genetics; 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorRawlins, Lettie E.en
dc.contributor.authorStals, Karenen
dc.contributor.authorEason, J. D.en
dc.contributor.authorTurnpenny, Peter D.en
dc.date.accessioned2017-03-10T10:53:40Z-
dc.date.available2017-03-10T10:53:40Z-
dc.date.issued2017-04-
dc.identifier.citationDe novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia. 2017, 26 (2):95-97 Clin. Dysmorphol.en
dc.identifier.issn1473-5717-
dc.identifier.pmid28263952-
dc.identifier.doi10.1097/MCD.0000000000000144-
dc.identifier.urihttp://hdl.handle.net/11287/620255-
dc.language.isoenen
dc.publisherWolters Kluweren
dc.relation.urlhttp://meta.wkhealth.com/pt/pt-core/template-journal/lwwgateway/media/landingpage.htm?issn=0962-8827&volume=26&issue=2&spage=95en
dc.rightsArchived with thanks to Clinical dysmorphologyen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleDe novo SETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia.en
dc.typeJournal Articleen
dc.identifier.journalClinical Dysmorphologyen
dc.type.versionPublisheden

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