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Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia |
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| Authors: | Thantrira Porntaveetus Chalurmpon Srichomthong Kanya Suphapeetiporn Vorasuk Shotelersuk |
| Affiliation: | 1. Craniofacial Genetics and Stem Cells Research Group, Faculty of Dentistry, Department of Physiology, Chulalongkorn University, Bangkok, Thailand;2. Center of Excellence for Medical Genetics, Faculty of Medicine, Department of Pediatrics, Chulalongkorn University, Bangkok, Thailand;3. Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand |
| Abstract: | |
| Keywords: | dento‐osseous dual diagnosis exome sequencing metabolic bone disease two mendelian diseases |