Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

IFAP syndrome is a rare genetic disorder characterized by ichthyosis follicularis, atrichia, and photophobia. Previous research found that mutations in MBTPS2, encoding site-2-protease (S2P), underlie X-linked IFAP syndrome. The present report describes the identification via whole-exome sequencing...

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Publicado no:Am J Hum Genet
Main Authors: Wang, Huijun, Humbatova, Aytaj, Liu, Yuanxiang, Qin, Wen, Lee, Mingyang, Cesarato, Nicole, Kortüm, Fanny, Kumar, Sheetal, Romano, Maria Teresa, Dai, Shangzhi, Mo, Ran, Sivalingam, Sugirthan, Motameny, Susanne, Wu, Yuan, Wang, Xiaopeng, Niu, Xinwu, Geng, Songmei, Bornholdt, Dorothea, Kroisel, Peter M., Tadini, Gianluca, Walter, Scott D., Hauck, Fabian, Girisha, Katta M., Calza, Anne-Marie, Bottani, Armand, Altmüller, Janine, Buness, Andreas, Yang, Shuxia, Sun, Xiujuan, Ma, Lin, Kutsche, Kerstin, Grzeschik, Karl-Heinz, Betz, Regina C., Lin, Zhimiao
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7332643/
https://ncbi.nlm.nih.gov/pubmed/32497488
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2020.05.006
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