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De Novo 17q24.2–q24.3 microdeletion presenting with generalized hypertrichosis terminalis,gingival fibromatous hyperplasia,and distinctive facial features
Authors:Noriko Miyake  Amina A Gamal el Din  Maha M Eid  Ola M Eid  Manal M Thomas  Tarek H El‐Badry  Angie M S Tosson  Ghada M H Abdel‐Salam  Naomichi Matsumoto
Institution:1. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan;2. Pathology Department, Medical Research Division, National Research Centre, Cairo, Egypt;3. Human Cytogenetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt;4. Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt;5. Orodental Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt;6. Pediatric Department, Faculty of Medicine, Cairo University, Cairo, Egypt
Abstract:
Keywords:hypertrichosis terminalis  gingival hyperplasia  coarse face  distinctive facial features  17q24  2‐q24  3 microdeletion  gingival biopsy
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