A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature. Issue 2 (April 2019)

Record Type:
Journal Article
Title:
A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature. Issue 2 (April 2019)
Main Title:
A patient with a novel CNTNAP2 homozygous variant
Authors:
Riccardi, Florence
Urquhart, Jill
McCullagh, Gary
Lawrence, Peter
Douzgou, Sofia
Abstract:
Abstract : Supplemental Digital Content is available in the text.
Is Part Of:
Clinical dysmorphology. Volume 28:Issue 2(2019:Apr.)
Journal:
Clinical dysmorphology
Issue:
Volume 28:Issue 2(2019:Apr.)
Issue Display:
Volume 28, Issue 2 (2019)
Year:
2019
Volume:
28
Issue:
2
Issue Sort Value:
2019-0028-0002-0000
Page Start:
Page End:
Publication Date:
2019-04
Subjects:
Abnormalities, Human -- Periodicals
Genetic disorders -- Periodicals
Abnormalities -- periodicals
Abnormalities, Human
Periodicals
616.042
Journal URLs:
http://gateway.ovid.com/ovidweb.cgi?T=JS&MODE=ovid&NEWS=n&PAGE=toc&D=ovft&AN=00019605-000000000-00000 ↗
http://journals.lww.com/clindysmorphol/pages/default.aspx ↗
http://journals.lww.com/pages/default.aspx ↗
http://firstsearch.oclc.org ↗
DOI:
10.1097/MCD.0000000000000259 ↗
Languages:
English
ISSNs:
0962-8827
Deposit Type:
Legaldeposit
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:
British Library DSC - 3286.273700
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store
Ingest File:
11949.xml