Hypotrichosis

[1]. Ana Kljuic, et al. Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgaris. Cell. 2003 Apr 18;113(2):249-60. [Content Brief]

[2]. Anastasiya Kazantseva, et al. Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. Science. 2006 Nov 10;314(5801):982-5. [Content Brief]

[3]. Atsushi Fujimoto, et al. A missense mutation within the helix initiation motif of the keratin K71 gene underlies autosomal dominant woolly hair/hypotrichosis. J Invest Dermatol. 2012 Oct;132(10):2342-2349. [Content Brief]

[4]. Cheng Zhou, et al. Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. Hum Mutat. 2011 Jul;32(7):710-4. [Content Brief]

[5]. María Rodríguez Vázquez, et al. Hereditary hypotrichosis simplex of the scalp. Pediatr Dermatol. 2002 Mar-Apr;19(2):148-50. [Content Brief]

[6]. Maria-Teresa Romano, et al. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. Am J Hum Genet. 2018 Nov 1;103(5):777-785. [Content Brief]

[7]. Naveed Wasif, et al. Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. Hum Genet. 2011 Apr;129(4):419-24. [Content Brief]

[8]. R C Betz, et al. A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. Am J Hum Genet. 2000 Jun;66(6):1979-83. [Content Brief]

[9]. Sandra M Pasternack, et al. Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. Am J Hum Genet. 2013 Jan 10;92(1):81-7. [Content Brief]

[10]. Xin Zhang, et al. Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. J Med Genet. 2012 Dec;49(12):727-30. [Content Brief]

[11]. Yaran Wen, et al. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. Nat Genet. 2009 Feb;41(2):228-33. [Content Brief]

[12]. Yutaka Shimomura, et al. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. Nature. 2010 Apr 15;464(7291):1043-7. [Content Brief]

[13]. Yutaka Shimomura, et al. Disruption of P2RY5, an orphan G protein-coupled receptor, underlies autosomal recessive woolly hair. Nat Genet. 2008 Mar;40(3):335-9. [Content Brief]