Publications

Boralevi F, et al. Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review.Br J Dermatol. 2005;153(2):310-8. PMID: 16086741.

Chacon-Camacho OF, et al. Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability. Am J Med Genet A. 2020;182(11):2773-2777. PMID: 32902915.

Morice-Picard F et al. 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;140(6):1289-1292. PMID: 31790666.

Slater BA et al. Phenotypic Expansion of Autosomal Dominant SREBF1-Related Ichthyosis Follicularis, Atrichia, Photophobia: It Is in Fact the Same Condition as Hereditary Mucoepithelial Dysplasia.Clin Genet. 2026;109(6):1049-1054. PMID: 41492963.

Wang H et al. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome. Am J Hum Genet. 2020;107(1):34-45. PMID: 32497488.

Wang H et al. A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataracts. Br J Dermatol. 2024;191(5):805-815. PMID: 39005171.