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

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

UN SDGs

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

SDG 3 Good Health and Well-being

Keywords

genetics
EDAR
ectodermal dysplasia

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",

month = mar,

day = "18",

doi = "10.1111/jdv.12457",

language = "English",

volume = "29",

pages = "1032--1034",

journal = "Journal of the European Academy of Dermatology and Venereology",

issn = "1468-3083",

publisher = "John Wiley and Sons Inc.",

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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 -