A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. Issue 5 (21st February 2019)

Record Type:: Journal Article
Title:: A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia. Issue 5 (21st February 2019)
Main Title:: A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia
Authors:: Yüksel, Zafer
Vogel, Florian
Alhashem, Amal M.
Alanzi, Talal S.A.
Tabarki, Brahim
Kampe, Kapil
Kandaswamy, Krishna K.
Werber, Martin
Bertoli‐Avella, Aida M.
Beetz, Christian
Rolfs, Arndt
Bauer, Peter
Abstract:: Abstract :
Is Part Of:: Clinical genetics. Volume 95:Issue 5(2019)
Journal:: Clinical genetics
Issue:: Volume 95:Issue 5(2019)
Issue Display:: Volume 95, Issue 5 (2019)
Year:: 2019
Volume:: 95
Issue:: 5
Issue Sort Value:: 2019-0095-0005-0000
Page Start:: 631
Page End:: 633
Publication Date:: 2019-02-21
Subjects:: Medical genetics -- Periodicals
616.0420
Journal URLs:: http://www.blackwell-synergy.com/loi/cge ↗
http://onlinelibrary.wiley.com/ ↗
DOI:: 10.1111/cge.13513 ↗
Languages:: English
ISSNs:: 0009-9163
Deposit Type:: Legaldeposit
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:: British Library DSC - 3286.287000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store
Ingest File:: 14167.xml