A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. (2020)

First Author: Cuvertino S
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