Nonsyndromic congenital nail disorder
Definition:
References:
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[1]. Diana C Blaydon, et al. The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet. 2006 Nov;38(11):1245-7. [Content Brief]
[2]. G Naz, et al. FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. Br J Dermatol. 2012 May;166(5):1088-94. [Content Brief]
[3]. Hiroyuki Nakamura, et al. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. J Dermatol Sci. 2004 May;34(3):195-200. [Content Brief]
[4]. Maija Kiuru, et al. Hereditary leukonychia, or porcelain nails, resulting from mutations in PLCD1. Am J Hum Genet. 2011 Jun 10;88(6):839-844. [Content Brief]
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