Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.
Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Chiang Mai University, Chiang Mai, Thailand; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; Dentaland Clinic, Chiang Mai, Thailand.
Piranit Nik
PN
Kantaputra
Chotika
C
Bongkochwilawan
Massupa
M
Kaewgahya
Atsushi
A
Ohazama
Hulya
H
Kayserili
Arzu Pinar
AP
Erdem
Oya
O
Aktoren
Yeliz
Y
Guven
D000293:Adolescent; D000567:Amelogenesis Imperfecta / Q000175:diagnosis / Q000235:genetics*; D000848:Anodontia / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D003746:Dental Enamel Proteins / Q000235:genetics*; D005260:Female; D005351:Fibromatosis, Gingival / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009397:Nephrocalcinosis / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype
D003746:Dental Enamel Proteins; C571509:FAM20A protein, human