Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol Homeostasis. [electronic resource]
Producer: 20210106Description: 1289-1292.e2 p. digitalISSN:- 1523-1747
- Alopecia -- diagnosis
- Arginine -- genetics
- Cholesterol -- metabolism
- DNA Mutational Analysis
- Female
- Heterozygote
- Humans
- Keratosis -- diagnosis
- Lipid Metabolism -- genetics
- Male
- Mucous Membrane -- metabolism
- Mutation
- Pedigree
- Polymorphism, Single Nucleotide
- Skin -- pathology
- Skin Abnormalities -- diagnosis
- Sterol Regulatory Element Binding Protein 1 -- genetics
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Publication Type: Letter
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