ECTD10B sendromu
Ectodermal dysplasia 10B; hypohydrotic/hair/tooth tipi
Kalıtsal - AR
Alın belirgin
Periorbital kırışıklıklar
Periorbital hiperpigmentasyon
Kaşlar ve kirpikler seyrek
Burun sırtı düz
Dudaklar kalın
Mikrodonti
Hipodonti
Anodonti
Terleme azlığı/yokluğu
Kıllar azalmış (hipotrikoz)
Sıcak ortama dayanıksızlık
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Shimomura Y, Sato N, Miyashita A, et al. A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. Journal of Investigative Dermatology, 123: 649-655, 2004
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Naeem M, Muhammad D, Ahmad W. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. British Journal of Dermatology, 153: 46-50, 2005
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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