De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. (2019)

First Author: Vetrini F
Attributed to:  The Northern Ireland Genomic Medicine Centre funded by MRC

Abstract

No abstract provided

Bibliographic Information

Digital Object Identifier: http://dx.doi.org/10.1186/s13073-019-0623-0

PubMed Identifier: 30819258

Publication URI: http://europepmc.org/abstract/MED/30819258

Type: Journal Article/Review

Volume: 11

Parent Publication: Genome medicine

Issue: 1

ISSN: 1756-994X