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FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Autor: Mao K; School of Engineering Medicine, Beihang University, Beijing, 100191, China., Borel C; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland., Ansar M; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland.; Jules-Gonin Eye Hospital, Department of Ophthalmology, University of Lausanne, 1004, Lausanne, Switzerland., Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Makrythanasis P; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland.; Laboratory of Medical Genetics, Medical School, University of Athens, Athens, Greece.; Biomedical Research Foundation of the Academy of Athens, Athens, Greece., Froehlich C; CeGaT GmbH and Praxis für Humangenetik Tuebingen, Tuebingen, 72076, Germany., Iwaszkiewicz J; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, 1015, Switzerland., Wang B; Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, 100144, China., Xu X; School of Engineering Medicine, Beihang University, Beijing, 100191, China.; Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing, China., Li Q; Department of Plastic Surgery, Affiliated Hospital of Xuzhou Medical University, Xuzhou, 221000, China., Blanc X; Medigenome, Swiss Institute of Genomic Medicine, 1207, Geneva, Switzerland., Zhu H; School of Engineering Medicine, Beihang University, Beijing, 100191, China., Chen Q; Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, 100144, China., Jin F; School of Engineering Medicine, Beihang University, Beijing, 100191, China.; Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing, China., Ankamreddy H; Department of Biotechnology, School of Bioengineering, SRMIST, Kattankulathur, Tamilnadu, 603203, India., Singh S; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA., Zhang H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA., Wang X; School of Engineering Medicine, Beihang University, Beijing, 100191, China.; Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing, China., Chen P; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Ranza E; Medigenome, Swiss Institute of Genomic Medicine, 1207, Geneva, Switzerland., Paracha SA; Anatomy Department, Khyber Medical University Institute of Medical Sciences (KIMS), Kohat, Pakistan., Shah SF; Department of Medicine, KMU Institute of Medical Sciences (KIMS), DHQ Hospital KDA, Kohat, Pakistan., Guida V; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Piceci-Sparascio F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Melis D; Department of Medicine, Surgery, and Dentistry, Università University degli of Studi di Salerno, Salerno, Italy., Dallapiccola B; Medical Genetics and Rare Disease Research Division, Pediatric Cardiology, Medical Genetics Laboratory, Neuropsychiatry, Scientific Rectorate, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Digilio MC; Sezione di Genetica Medica, Ospedale 'Bambino Gesù', Rome, Italy., Novelli A; Sezione di Genetica Medica, Ospedale 'Bambino Gesù', Rome, Italy., Magliozzi M; Sezione di Genetica Medica, Ospedale 'Bambino Gesù', Rome, Italy., Fadda MT; Department of Maxillo-Facial Surgery, Policlinico Umberto I, Rome, Italy., Streff H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Machol K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Zoete V; Molecular Modeling Group, Swiss Institute of Bioinformatics, Lausanne, 1015, Switzerland.; Department of Fundamental Oncology, Ludwig Institute for Cancer Research, Lausanne University, Epalinges, 1066, Switzerland., Squeo GM; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia, Perugia, Italy., Mancano G; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy., Gori G; Medical Genetics Unit, Meyer Children's University Hospital, Florence, Italy., Mariani M; Pediatric Department, ASST Lariana, Santa Anna General Hospital, Como, Italy., Selicorni A; Pediatric Department, ASST Lariana, Santa Anna General Hospital, Como, Italy., Psoni S; Laboratory of Medical Genetics, Medical School, University of Athens, Athens, Greece., Fryssira H; Laboratory of Medical Genetics, Medical School, University of Athens, Athens, Greece., Douzgou S; Division of Evolution, Infection and Genomics, School of Biological Sciences, University of Manchester, Manchester, UK.; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Marlin S; Centre de Référence Surdités Génétiques, Hôpital Necker, Institut Imagine, Paris, France., Biskup S; CeGaT GmbH and Praxis für Humangenetik Tuebingen, Tuebingen, 72076, Germany., De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy., Merla G; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Via S. Pansini 5, 80131, Naples, Italy., Zhao S; Department of Otolaryngology-Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Beijing, China., Cox TC; Departments of Oral & Craniofacial Sciences and Pediatrics, University of Missouri-Kansas City, Kansas City, MO, 64108, USA., Groves AK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX, 77030, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, 77030, USA., Zhang Q; Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Beijing, 100144, China. plastic135@126.com., Zhang YB; School of Engineering Medicine, Beihang University, Beijing, 100191, China. zhangyongbiao@buaa.edu.cn.; Key Laboratory of Big Data-Based Precision Medicine (Beihang University), Ministry of Industry and Information Technology, Beijing, China. zhangyongbiao@buaa.edu.cn., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical Faculty, Geneva, 1211, Switzerland. stylianos.antonarakis@unige.ch.; Medigenome, Swiss Institute of Genomic Medicine, 1207, Geneva, Switzerland. stylianos.antonarakis@unige.ch.; iGE3 Institute of Genetics and Genomes in Geneva, Geneva, Switzerland. stylianos.antonarakis@unige.ch.

Publikováno v: Nature communications [Nat Commun] 2023 Apr 11; Vol. 14 (1), pp. 2026. Date of Electronic Publication: 2023 Apr 11.