Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis.

J Invest Dermatol

Paediatric Dermatology Department, Bordeaux University Hospital, Bordeaux, France; University of Bordeaux, INSERM, U1211, Bordeaux, France.

Published: June 2020

Download full-text PDF	Source
http://dx.doi.org/10.1016/j.jid.2019.10.014	DOI Listing

Publication Analysis

hereditary mucoepithelial

mucoepithelial dysplasia

dysplasia heterozygous

heterozygous variants

variants parg557

parg557 mutational

mutational hotspot

hotspot srebf1

srebf1 encoding

encoding transcription

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!