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. 2020 Jun;140(6):1289-1292.e2. doi: 10.1016/j.jid.2019.10.014. Epub 2019 Nov 29.

¹ Paediatric Dermatology Department, Bordeaux University Hospital, Bordeaux, France; University of Bordeaux, INSERM, U1211, Bordeaux, France. Electronic address: [email protected].
² Medical Genetics Department, Bordeaux University Hospital, Bordeaux, France.
³ University of Bordeaux, INSERM, U1211, Bordeaux, France.
⁴ Paediatric Dermatology Department, Montpellier University Hospital, Montpellier, France.
⁵ Paediatric Dermatology Department, Bordeaux University Hospital, Bordeaux, France; University of Bordeaux, INSERM, U1211, Bordeaux, France.
⁶ University of Bordeaux, INSERM, U1211, Bordeaux, France; University of Bordeaux, INSERM, U1035, Bordeaux, France.
⁷ Medical Genetics Department, Bordeaux University Hospital, Bordeaux, France; University of Bordeaux, INSERM, U1035, Bordeaux, France.

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