Identification of a novel frameshift mutation in theEDARgene causing autosomal dominant hypohidrotic ectodermal dysplasia

M. Callea; Colin Willoughby; P. Nieminen; M. Di Stazio; E. Bellacchio; S. Giglio; I. Sani; A. Vinciguerra; M. Maglione; G. Tadini; G. Clarich

doi:10.1111/jdv.12457

Identification of a novel frameshift mutation in theEDARgene causing autosomal dominant hypohidrotic ectodermal dysplasia

M. Callea, Colin Willoughby, P. Nieminen, M. Di Stazio, E. Bellacchio, S. Giglio, I. Sani, A. Vinciguerra, M. Maglione, G. Tadini, G. Clarich

Research output: Contribution to journal › Article › peer-review

9 Citations (Scopus)

Original language	English
Pages (from-to)	1032-1034
Journal	Journal of the European Academy of Dermatology and Venereology
Volume	29
Issue number	5
DOIs	https://doi.org/10.1111/jdv.12457
Publication status	Accepted/In press - 18 Mar 2014

Keywords

genetics
EDAR
ectodermal dysplasia

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1111/jdv.12457

http://uir.ulster.ac.uk/39690/1/jdv12457.pdf

Cite this

Callea, M., Willoughby, C., Nieminen, P., Di Stazio, M., Bellacchio, E., Giglio, S., Sani, I., Vinciguerra, A., Maglione, M., Tadini, G., & Clarich, G. (Accepted/In press). Identification of a novel frameshift mutation in theEDARgene causing autosomal dominant hypohidrotic ectodermal dysplasia. Journal of the European Academy of Dermatology and Venereology, 29(5), 1032-1034. https://doi.org/10.1111/jdv.12457

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title = "Identification of a novel frameshift mutation in theEDARgene causing autosomal dominant hypohidrotic ectodermal dysplasia",

keywords = "genetics, EDAR, ectodermal dysplasia",

author = "M. Callea and Colin Willoughby and P. Nieminen and {Di Stazio}, M. and E. Bellacchio and S. Giglio and I. Sani and A. Vinciguerra and M. Maglione and G. Tadini and G. Clarich",

year = "2014",

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doi = "10.1111/jdv.12457",

language = "English",

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Callea, M, Willoughby, C, Nieminen, P, Di Stazio, M, Bellacchio, E, Giglio, S, Sani, I, Vinciguerra, A, Maglione, M, Tadini, G & Clarich, G 2014, 'Identification of a novel frameshift mutation in theEDARgene causing autosomal dominant hypohidrotic ectodermal dysplasia', Journal of the European Academy of Dermatology and Venereology, vol. 29, no. 5, pp. 1032-1034. https://doi.org/10.1111/jdv.12457

TY - JOUR

T1 - Identification of a novel frameshift mutation in theEDARgene causing autosomal dominant hypohidrotic ectodermal dysplasia

AU - Callea, M.

AU - Willoughby, Colin

AU - Nieminen, P.

AU - Di Stazio, M.

AU - Bellacchio, E.

AU - Giglio, S.

AU - Sani, I.

AU - Vinciguerra, A.

AU - Maglione, M.

AU - Tadini, G.

AU - Clarich, G.

PY - 2014/3/18

Y1 - 2014/3/18

KW - genetics

KW - EDAR

KW - ectodermal dysplasia

U2 - 10.1111/jdv.12457

DO - 10.1111/jdv.12457

M3 - Article

SN - 1468-3083

VL - 29

SP - 1032

EP - 1034

JO - Journal of the European Academy of Dermatology and Venereology

JF - Journal of the European Academy of Dermatology and Venereology

IS - 5

ER -