Ectodermal dysplasia
Definition:
参考文献:
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[1]. Alon Peled, et al. Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. PLoS Genet. 2016 Oct 13;12(10):e1006369. [Content Brief]
[2]. K Suzuki, et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet. 2000 Aug;25(4):427-30. [Content Brief]
[3]. Muzeyyen Yildirim, et al. Ectodermal dysplasia: otolaryngologic evaluation of 23 cases. Ear Nose Throat J. 2012 Feb;91(2):E28-33. [Content Brief]
[4]. Pierre Vabres, et al. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nat Genet. 2019 Oct;51(10):1438-1441. [Content Brief]
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