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4. Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis. Morice-Picard F; Michaud V; Lasseaux E; Rezvani HR; Plaisant C; Bessis D; Leauté-Labrèze C; Arveiler B; Taieb A; Trimouille A; Boralevi F J Invest Dermatol; 2020 Jun; 140(6):1289-1292.e2. PubMed ID: 31790666 [No Abstract] [Full Text] [Related]
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