Morice-Picard, Fanny <br/><br/>
Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis.  [electronic resource] 

 -  The Journal of investigative dermatology  06 2020 
 - 1289-1292.e2 p.  digital 
<br/><br/> Publication Type: Letter 
<br/><br/><label>ISSN: </label>1523-1747 
<br/><br/><label>Standard No.: </label>10.1016/j.jid.2019.10.014  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alopecia--diagnosis<br/>Arginine--genetics<br/>Cholesterol--metabolism<br/>DNA Mutational Analysis<br/>Female<br/>Heterozygote<br/>Humans<br/>Keratosis--diagnosis<br/>Lipid Metabolism--genetics<br/>Male<br/>Mucous Membrane--metabolism<br/>Mutation<br/>Pedigree<br/>Polymorphism, Single Nucleotide<br/>Skin--pathology<br/>Skin Abnormalities--diagnosis<br/>Sterol Regulatory Element Binding Protein 1--genetics