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

Authors :
Callea M
Nieminen P
Willoughby CE
Clarich G
Yavuz I
Vinciguerra A
Di Stazio M
Giglio S
Sani I
Maglione M
Pensiero S
Tadini G
Bellacchio E
Source :
Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2016 Feb; Vol. 30 (2), pp. 341-3. Date of Electronic Publication: 2014 Sep 30.
Publication Year :
2016

Subjects

Subjects :
DNA Mutational Analysis
Ectodermal Dysplasia 1, Anhidrotic diagnosis
Ectodermal Dysplasia 1, Anhidrotic metabolism
Ectodysplasins metabolism
Exons
Female
Humans
Italy
Male
Pedigree
Phenotype
DNA genetics
Ectodermal Dysplasia 1, Anhidrotic genetics
Ectodysplasins genetics
Family
INDEL Mutation genetics

Details

Language :
English
ISSN :
1468-3083
Volume :
30
Issue :
2
Database :
MEDLINE
Journal :
Journal of the European Academy of Dermatology and Venereology : JEADV
Publication Type :
Report
Accession number :
25266272
Full Text :
https://doi.org/10.1111/jdv.12747
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