The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
نویسندگان
چکیده
1 Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland 2Mehiläinen Clinic, Vantaa, Finland 3Department of Clinical Genetics, Helsinki University Central Hospital and Department of Medical Genetics, University of Helsinki, Helsinki, Finland 4National Institute for Health and Welfare, Helsinki, Finland 5Radiz–Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland 6 Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland 7Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland Correspondence Anita Rauch, Institute of Medical Genetics, University of Zurich, Wagistrasse 12, 8592 Schlieren-Zurich, Switzerland. Email: [email protected] K E YWORD S abnormal corpus callosum, ARID1B, Coffin-Siris syndrome, HHID, hyperkeratosis, hypertrichosis, intellectual disability, minor anomalies
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