@article{0be6c82d9f324e98a7f63c022c19cf4f,
title = "Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature",
abstract = "Congenital abnormalities of the nail are rare conditions that are most frequently associated with congenital ectodermal syndromes involving several of the epidermal appendages including the skin, teeth, hair and nails. Isolated recessive nail dysplasia (IRND) is much rarer but has recently been recognized as a condition resulting in 20-nail dystrophy in the absence of other cutaneous or extracutaneous findings. A few case reports have identified mutations in the Frizzled 6 (FZD6) gene in families presenting with abnormal nails consistent with IRND. These reports have highlighted the role of Wnt-FZD signalling in the process of nail formation. We report three families presenting with features of IRND, in whom we identified mutations in FZD6, including one previously unreported mutation.",
author = "C. Kasparis and D. Reid and Wilson, {N. J.} and V. Okur and C. Cole and Hansen, {C. D.} and K. Bosse and Betz, {R. C.} and M. Khan and Smith, {F. J. D.}",
note = "We thank all the families involved in this study. FJDS and NJW were supported by a grant from the Pachyonychia Congenita Project (to FJDS). We also thank M. E. Schwartz and H A. Evans of Pachyonychia Congenita Project (http://www.pachyonychia.org) for their assistance and useful comments and Professor E. O{\textquoteright}Toole, Department of Dermatology, The Royal London Hospital, London, for assistance with the diagnosis of family 1 and further guidance. The Centre for Dermatology and Genetic Medicine at the University of Dundee is supported by a Wellcome Trust Strategic Award (098439/Z/12/Z to WHIMcL). RCB is a recipient of a Heisenberg Professorship of the German Research Foundation (DFG) and is a member of the DFG-funded Excellence Cluster ImmunoSensation.",
year = "2016",
month = dec,
doi = "10.1111/ced.12934",
language = "English",
volume = "41",
pages = "884--889",
journal = "Clinical and Experimental Dermatology",
issn = "0307-6938",
publisher = "Oxford University Press",
number = "8",
}