A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. (2020)
Attributed to:
Ciliopathy disease gene identification by whole exome medical resequencing
funded by
MRC
Abstract
No abstract provided
Bibliographic Information
Digital Object Identifier: http://dx.doi.org/10.1038/s41436-019-0743-3
PubMed Identifier: 31949313
Publication URI: http://europepmc.org/abstract/MED/31949313
Type: Journal Article/Review
Volume: 22
Parent Publication: Genetics in medicine : official journal of the American College of Medical Genetics
Issue: 5
ISSN: 1098-3600