A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly. Issue 8 (1st May 2021)

Record Type:: Journal Article
Title:: A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly. Issue 8 (1st May 2021)
Main Title:: A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly
Authors:: Rogers, Alice P.
Friend, Kathryn
Rawlings, Lesley
Barnett, Christopher P.
Abstract:
Is Part Of:: American journal of medical genetics. Volume 185:Issue 8(2021)
Journal:: American journal of medical genetics
Issue:: Volume 185:Issue 8(2021)
Issue Display:: Volume 185, Issue 8 (2021)
Year:: 2021
Volume:: 185
Issue:: 8
Issue Sort Value:: 2021-0185-0008-0000
Page Start:: 2586
Page End:: 2592
Publication Date:: 2021-05-01
Subjects:: Medical genetics -- Periodicals
616.14205
Journal URLs:: http://onlinelibrary.wiley.com/ ↗
DOI:: 10.1002/ajmg.a.62238 ↗
Languages:: English
ISSNs:: 1552-4825
Deposit Type:: Legaldeposit
View Content:: Available online (eLD content is only available in our Reading Rooms) ↗
Physical Locations:: British Library DSC - 0827.920000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store
Ingest File:: 24404.xml