Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature. Issue 4 (October 2020)

Record Type:
Journal Article
Title:
Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature. Issue 4 (October 2020)
Main Title:
Expansion of the phenotypic spectrum of SMC1A nonsense variants
Authors:
Türkyilmaz, Ayberk
Türkdoğan, Dilşad
Görmez, Zeliha
Ekinci, Gazanfer
Abstract:
Is Part Of:
Clinical dysmorphology. Volume 29:Issue 4(2020:Oct.)
Journal:
Clinical dysmorphology
Issue:
Volume 29:Issue 4(2020:Oct.)
Issue Display:
Volume 29, Issue 4 (2020)
Year:
2020
Volume:
29
Issue:
4
Issue Sort Value:
2020-0029-0004-0000
Page Start:
Page End:
Publication Date:
2020-10
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.0000000000000326 ↗
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:
14958.xml