Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Huijun Wang,Aytaj Humbatova,Yuanxiang Liu,Wen Qin,Mingyang Lee,Nicole Cesarato,Fanny Kortuem,Sheetal Kumar,Maria Teresa Romano,Shangzhi Dai,Ran Mo,Sugirthan Sivalingam,Susanne Motameny,Yuan Wu,Xiaopeng Wang,Xinwu Niu,Songmei Geng,Dorothea Bornholdt,Peter M. Kroisel,Gianluca Tadini,Scott D. Walter,Fabian Hauck,Katta M. Girisha,Anne-Marie Calza,Armand Bottani,Janine Altmueller,Andreas Buness,Shuxia Yang, Xiujuan Sun,Lin Ma,Kerstin Kutsche,Karl-Heinz Grzeschik,Regina C. Betz,Zhimiao Lin The American Journal of Human Genetics（2020）
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