A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

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

doi:10.1111/jdv.12747

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

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

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

7 Citations (Scopus)

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Original language	English
Pages (from-to)	341-343
Journal	Journal of the European Academy of Dermatology and Venereology
Volume	30
Issue number	2
DOIs	https://doi.org/10.1111/jdv.12747
Publication status	Accepted/In press - 30 Sept 2014

Keywords

ectodermal dysplasia
EDAR
genetics
cornea

UN SDGs

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

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10.1111/jdv.12747

Jdv12747Final published version, 280 KB

Cite this

Callea, M., Nieminen, P., Willoughby, C., Clarich, G., Yavuz, I., Vinciguerra, A., Di Stazio, M., Giglio, S., Sani, I., Maglione, M., Pensiero, S., Tadini, G., & Bellacchio, E. (Accepted/In press). A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family. Journal of the European Academy of Dermatology and Venereology, 30(2), 341-343. https://doi.org/10.1111/jdv.12747

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

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Callea, M, Nieminen, P, Willoughby, C, Clarich, G, Yavuz, I, Vinciguerra, A, Di Stazio, M, Giglio, S, Sani, I, Maglione, M, Pensiero, S, Tadini, G & Bellacchio, E 2014, 'A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family', Journal of the European Academy of Dermatology and Venereology, vol. 30, no. 2, pp. 341-343. https://doi.org/10.1111/jdv.12747

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T1 - A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family

AU - Callea, M.

AU - Nieminen, P.

AU - Willoughby, Colin

AU - Clarich, G.

AU - Yavuz, I.

AU - Vinciguerra, A.

AU - Di Stazio, M.

AU - Giglio, S.

AU - Sani, I.

AU - Maglione, M.

AU - Pensiero, S.

AU - Tadini, G.

AU - Bellacchio, E.

PY - 2014/9/30

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KW - ectodermal dysplasia

KW - EDAR

KW - genetics

KW - cornea

U2 - 10.1111/jdv.12747

DO - 10.1111/jdv.12747

M3 - Article

SN - 1468-3083

VL - 30

SP - 341

EP - 343

JO - Journal of the European Academy of Dermatology and Venereology

JF - Journal of the European Academy of Dermatology and Venereology

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ER -