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

AuthorsFanny Morice-Picard, Vincent Michaud, Eulalie Lasseaux, Hamid Reza Rezvani, Claudio Plaisant, Didier Bessis, Christine Leauté-Labrèze, Benoit Arveiler, Alain Taieb, Aurélien Trimouille, Franck Boralevi
JournalThe Journal of investigative dermatology (J Invest Dermatol) Vol. 140 Issue 6 Pg. 1289-1292.e2 (06 2020) ISSN: 1523-1747 [Electronic] United States
PMID31790666 (Publication Type: Letter)
Chemical References
  • SREBF1 protein, human
  • Sterol Regulatory Element Binding Protein 1
  • Arginine
  • Cholesterol
Topics
  • Alopecia (diagnosis, genetics, metabolism, pathology)
  • Arginine (genetics)
  • Cholesterol (metabolism)
  • DNA Mutational Analysis
  • Female
  • Heterozygote
  • Humans
  • Keratosis (diagnosis, genetics, metabolism, pathology)
  • Lipid Metabolism (genetics)
  • Male
  • Mucous Membrane (metabolism, pathology)
  • Mutation
  • Pedigree
  • Polymorphism, Single Nucleotide
  • Skin (pathology)
  • Skin Abnormalities (diagnosis, genetics, metabolism, pathology)
  • Sterol Regulatory Element Binding Protein 1 (genetics, metabolism)

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