Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation

Am J Med Genet A. 2014 Aug;164A(8):2124-8. doi: 10.1002/ajmg.a.36579. Epub 2014 Apr 22.

Authors

Piranit Nik Kantaputra¹, Chotika Bongkochwilawan, Massupa Kaewgahya, Atsushi Ohazama, Hulya Kayserili, Arzu Pinar Erdem, Oya Aktoren, Yeliz Guven

Affiliation

¹ 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.

PMID: 24756937
DOI: 10.1002/ajmg.a.36579

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Amelogenesis Imperfecta / diagnosis
Amelogenesis Imperfecta / genetics*
Anodontia / diagnosis
Anodontia / genetics*
DNA Mutational Analysis
Dental Enamel Proteins / genetics*
Female
Fibromatosis, Gingival / diagnosis
Fibromatosis, Gingival / genetics*
Humans
Male
Mutation
Nephrocalcinosis / diagnosis
Nephrocalcinosis / genetics*
Phenotype

Substances

Dental Enamel Proteins
FAM20A protein, human

Supplementary concepts

Amelogenesis imperfecta nephrocalcinosis