Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta

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KIM Y., Seymen F., Koruyucu M., Kasimoglu Y., Gencay K., SHIN T. J., ...More

ORAL DISEASES, vol.22, no.4, pp.297-302, 2016 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 22 Issue: 4
  • Publication Date: 2016
  • Doi Number: 10.1111/odi.12439
  • Journal Name: ORAL DISEASES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.297-302
  • Keywords: hereditary, genetic diseases, enamel, tooth, DLX3, Taurodontism, TRICHODENTOOSSEOUS SYNDROME, FAMILY, DIFFERENTIATION, TAURODONTISM, PHENOTYPE, LINKAGE, HAIR
  • Open Archive Collection: AVESIS Open Access Collection
  • Istanbul University Affiliated: Yes

Abstract

ObjectiveTo identify the molecular genetic aetiology of a family with autosomal dominant amelogenesis imperfecta (AI).