TY  - GEN
AU  - Morice-Picard,Fanny
AU  - Michaud,Vincent
AU  - Lasseaux,Eulalie
AU  - Rezvani,Hamid Reza
AU  - Plaisant,Claudio
AU  - Bessis,Didier
AU  - Leauté-Labrèze,Christine
AU  - Arveiler,Benoit
AU  - Taieb,Alain
AU  - Trimouille,Aurélien
AU  - Boralevi,Franck
TI  - Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis
SN  - 1523-1747
PY  - 2021///0106
KW  - Alopecia
KW  - diagnosis
KW  - Arginine
KW  - genetics
KW  - Cholesterol
KW  - metabolism
KW  - DNA Mutational Analysis
KW  - Female
KW  - Heterozygote
KW  - Humans
KW  - Keratosis
KW  - Lipid Metabolism
KW  - Male
KW  - Mucous Membrane
KW  - Mutation
KW  - Pedigree
KW  - Polymorphism, Single Nucleotide
KW  - Skin
KW  - pathology
KW  - Skin Abnormalities
KW  - Sterol Regulatory Element Binding Protein 1
N1  - Publication Type: Letter
UR  - https://doi.org/10.1016/j.jid.2019.10.014
ER  -