Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation

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Atıf İçin Kopyala

HERZOG C. R., Reid B. M., Seymen F., Koruyucu M., Tuna E. B., SIMMER J. P., ...Daha Fazla

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY, cilt.119, sa.2, 2015 (SCI-Expanded)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 119 Sayı: 2
• Basım Tarihi: 2015
• Doi Numarası: 10.1016/j.oooo.2014.09.003
• Dergi Adı: ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• İstanbul Üniversitesi Adresli: Evet

Özet

In this case report of autosomal recessive pigmented hypomaturation amelogenesis imperfecta (AI), we identify a novel homozygous missense mutation (g.165151 T>G; c.1317 T>G; p.Leu436 Arg) in SLC24A4, a gene encoding a potassium- dependent sodium- calcium exchanger that is critical for hardening dental enamel during tooth development.