ECTD12 sendromu
Ectodermal dysplasia 12; hypohydrotic/hair/tooth/nail tipi
Kalıtsal - AD
Saçlar mat-cansız
Kaşlar yanlarda ince
Semer burun
Hipodonti
Oligodonti
Terleme azlığı
Hidradenitis suppurativa
Keratosis pilaris
Avuç çizgilerinde derinleşme
Subungual hiperkeratoz
Distrofik tırnaklar
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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
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Shamseldin HE, Khalifa O, Binamer YM, et al. KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia. Human Genetics, 136: 99-105, 2017