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Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis
Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi
- University of Helsinki
- Department of Biomedical Sciences, University of Copenhagen, 2200, Copenhagen N, Denmark.
- Centre for Craniofacial and Regenerative Biology
- Laboratory of Experimental Cardiology, Department of Biomedical Sciences, University of Copenhagen, 22000, Copenhagen, Denmark.
- Oulu University Hospital
- Department of Medicine, Oulu University Hospital, Finland and Research Unit of Internal Medicine, University of Oulu, 90014, Oulu, Finland.
- Helsinki University Central Hospital
- Inserm U1172, Jean-Pierre Aubert Research Center, Development and Plasticity of the Neuroendocrine Brain, 59045, Lille, France.
- Lausanne University Hospital
- Department of Biochemistry and Molecular Biology, George S. Wise Faculty of Life Sciences, Institute of Structural Biology, 69978, Ramat Aviv, Israel.
- Department of Cell Biology, Physiology and Immunology, University of Córdoba, 14071, Cordoba, Spain.
- IGF, CNRS, INSERM, Univ. Montpellier, F-34094, Montpellier, France.
Research output: Contribution to journal › Article › peer-review
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