E

 

ECTD11A sendromu (Ectodermal dysplasia 11A; hypohydrotic tip)

Kalıtsal - AD

Hipodonti

Memelerin agenezi (unilatral/bilateral)

Terlemede azalma

Saçlar seyrek-kırılgan/oluşmamış

 

  • Bal E, Baala L, Cluzeau C, et al. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Human Mutation, 28: 703-709, 2007

  • 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

  • Wohlfart S, Soder S, Smahi A, Schneider H. A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia. American Journal of Medical Genetics, 170A: 249-253, 2016