Ectodermal dysplasia, hair-nail type

[1]. A W Monreal, et al. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet. 1999 Aug;22(4):366-9. [Content Brief]

[2]. Doroteya Raykova, et al. Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. PLoS One. 2014 Apr 8;9(4):e93607. [Content Brief]

[3]. M Naeem, et al. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. J Med Genet. 2006 Mar;43(3):274-9. [Content Brief]

[4]. W H Irwin McLean, et al. Keratin disorders: from gene to therapy. Hum Mol Genet. 2011 Oct 15;20(R2):R189-97. [Content Brief]

[5]. Yasmin A Issa, et al. Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families. Eur J Hum Genet. 2016 Oct;24(10):1430-5. [Content Brief]

[6]. Zhimiao Lin, et al. Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia. Am J Hum Genet. 2012 Nov 2;91(5):906-11. [Content Brief]