Litcius/Paper detail

Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants

Chiaki Murase, Takuya Takeichi, Toshifumi Nomura, Tomoo Ogi, Masashi Akiyama

2020Journal of Investigative Dermatology10 citationsDOIOpen Access PDF

Topics & Concepts

Mendelian inheritanceGeneticsOMIM : Online Mendelian Inheritance in ManSterol regulatory element-binding proteinBiologyTranscription factorInheritance (genetic algorithm)GenePhenotypeCholesterol and Lipid MetabolismCancer-related molecular mechanisms researchCancer, Lipids, and Metabolism