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Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
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.
Affiliation
  • Wang H; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China.
  • Humbatova A; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany.
  • Liu Y; Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
  • Qin W; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China.
  • Lee M; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China.
  • Cesarato N; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany.
  • Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Kumar S; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany.
  • Romano MT; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany.
  • Dai S; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China.
  • Mo R; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China.
  • Sivalingam S; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Medical Faculty, 53127 Bonn, Germany; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty, 53127 Bonn, Germany.
  • Motameny S; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Wu Y; Department of Ophthalmology, Peking University First Hospital, Beijing 100034, China.
  • Wang X; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China.
  • Niu X; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China.
  • Geng S; Department of Dermatology, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an 710004, China.
  • Bornholdt D; Centre for Human Genetics, University of Marburg, 35033 Marburg, Germany.
  • Kroisel PM; Institute of Human Genetics, Medical University of Graz, 8010 Graz, Austria.
  • Tadini G; Pediatric Dermatology Unit, Department of Pathophysiology and Transplantation, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.
  • Walter SD; Retina Consultants, P.C., 43 Woodland Street, Suite 100, Hartford, CT 06105, USA.
  • Hauck F; Department of Pediatrics, University Hospital Carl Gustav Carus, TU Dresden, 01307 Dresden, Germany; Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.
  • Calza AM; Department of Dermatology and Venereology, Geneva University Hospitals, 1205 Geneva, Switzerland.
  • Bottani A; Service of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland.
  • Altmüller J; Cologne Center for Genomics, University of Cologne, 50931 Cologne, Germany.
  • Buness A; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Medical Faculty, 53127 Bonn, Germany; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Medical Faculty, 53127 Bonn, Germany.
  • Yang S; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China.
  • Sun X; Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
  • Ma L; Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
  • Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
  • Grzeschik KH; Centre for Human Genetics, University of Marburg, 35033 Marburg, Germany.
  • Betz RC; Institute of Human Genetics, University of Bonn, Medical Faculty & University Hospital Bonn, 53127 Bonn, Germany. Electronic address: regina.betz@uni-bonn.de.
  • Lin Z; Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China. Electronic address: zhimiaolin@bjmu.edu.cn.
Am J Hum Genet ; 107(1): 34-45, 2020 07 02.
Article de En | MEDLINE | ID: mdl-32497488
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Arthrogrypose / Protéine-1 de liaison à l'élément de régulation des stérols / Mutation Type d'étude: Prognostic_studies Limites: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Langue: En Journal: Am J Hum Genet Année: 2020 Type de document: Article Pays d'affiliation: Chine
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Arthrogrypose / Protéine-1 de liaison à l'élément de régulation des stérols / Mutation Type d'étude: Prognostic_studies Limites: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Langue: En Journal: Am J Hum Genet Année: 2020 Type de document: Article Pays d'affiliation: Chine