E

 

ECTD10A sendromu (Ectodermal dysplasia 10A; hair/tooth/nail tipi)

Kalıtsal - AD

Hipodonti

Anodonti

Biçimsiz dişler

Mikrodonti

Terleme azlığı

İnce-kuru deri

Tırnaklada displazi

Hipotrikoz

İnce ve güçsüz saçlar

Kaşlar ve kirpikler seyrek

Isıya tolerans yokluğu

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  • Jorgenson RJ, Dowben JS, Dowben SL. Autosomal dominant ectodermal dysplasia. Journal of Craniofacial Genetics & Developmental Biology,7: 403-412, 1987

  • Aswegan AL, Josephson KD, Mowbray R, et al. Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. American Journal of Medical Genetics, 72: 462-467, 1997

  • Cluzeau C, Hadj-Rabia S, Jambou M, et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Human Mutation, 32: 70-77, 2011