Produção Nacional
Revisado por pares
Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome
2022; BMJ; Volume: 81; Issue: 10 Linguagem: Inglês
10.1136/annrheumdis-2022-222629
ISSN1468-2060
AutoresChristina Torres Kozycki, Shilpa Kodati, Laryssa A. Huryn, Hongying Wang, Blake M. Warner, Priyam Jani, Dima A. Hammoud, Mones Abu‐Asab, Yingyos Jittayasothorn, Mary J. Mattapallil, Wanxia Li Tsai, Ehsan Ullah, Ping‐Kun Zhou, Xiaoying Tian, Ariane Soldatos, Niki M. Moutsopoulos, Marie Kao-Hsieh, Theo Heller, Edward W. Cowen, Chyi‐Chia Richard Lee, Camilo Toro, Shelley S. Kalsi, Zohreh Khavandgar, Alan N. Baer, Margaret Beach, Debra Long Priel, Michele Nehrebecky, Sofia Rosenzweig, Tina Romeo, Natalie Deuitch, Laurie Brenchley, Eileen Pelayo, Wadih M. Zein, Nida Sen, Alexander H. Yang, Gary L. Farley, David A. Sweetser, Lauren C. Briere, Janine Yang, Fabiano de Oliveira Poswar, Ida Vanessa Döederlein Schwartz, Tamires Silva Alves, Perrine Dusser, Isabelle Koné‐Paut, Isabelle Touitou, Salah Mohamed Titah, P. Martin van Hagen, Rogier T. A. van Wijck, Peter J. van der Spek, Hiromi YANO, Andreas Benneche, Ellen M. Apalset, Ragnhild Wivestad Jansson, Rachel R Caspi, Douglas B. Kuhns, Massimo Gadina, Hidetoshi Takada, Hiroaki Ida, Ryuta Nishikomori, Elena Verrecchia, Eugenio Sangiorgi, Raffaele Manna, Brian P. Brooks, Lucia Sobrin, Robert B. Hufnagel, David B. Beck, Feng Shao, Amanda K. Ombrello, Ivona Aksentijevich, Daniel L. Kastner,
Tópico(s)Dermatological and Skeletal Disorders
ResumoTo test the hypothesis that ROSAH (retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and headache) syndrome, caused by dominant mutation in
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