Abstract
| Original language | English |
|---|---|
| Pages (from-to) | 338-342 |
| Journal | Clinical Genetics |
| Volume | 87 |
| Issue number | 4 |
| DOIs | |
| Publication status | Accepted/In press - 11 Apr 2014 |
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Keywords
- ED1 gene
- X-linked hypohidrotic ectodermal dysplasia
- genotype
- phenotype
Cite this
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Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia. / Guazzarotti, L.; Tadini, G.; Mancini, G.E.; Giglio, S.; Willoughby, Colin; Callea, M.; Sani, I.; Nannini, P.; Mameli, C.; Tenconi, A.A.; Mauri, S.; Bottero, A.; Caimi, A.; Morelli, M.; Zuccotti, G.V.
In: Clinical Genetics, Vol. 87, No. 4, 11.04.2014, p. 338-342.Research output: Contribution to journal › Article
TY - JOUR
T1 - Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia
AU - Guazzarotti, L.
AU - Tadini, G.
AU - Mancini, G.E.
AU - Giglio, S.
AU - Willoughby, Colin
AU - Callea, M.
AU - Sani, I.
AU - Nannini, P.
AU - Mameli, C.
AU - Tenconi, A.A.
AU - Mauri, S.
AU - Bottero, A.
AU - Caimi, A.
AU - Morelli, M.
AU - Zuccotti, G.V.
PY - 2014/4/11
Y1 - 2014/4/11
N2 - Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by the abnormal development of the ectodermal-derived structures. X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form. The main purpose of this study was to characterize the phenotype spectrum in 45 males harboring ED1 mutations. The study showed that in addition to the involvement of the major ectodermal tissues, the majority of patients also have alterations of several minor ectodermal-derived structures. Characterizing the clinical spectrum resulting from ED1 gene mutations improves diagnosis and can direct clinical care.
AB - Ectodermal dysplasias (EDs) are a group of genetic disorders characterized by the abnormal development of the ectodermal-derived structures. X-linked hypohidrotic ectodermal dysplasia, resulting from mutations in ED1 gene, is the most common form. The main purpose of this study was to characterize the phenotype spectrum in 45 males harboring ED1 mutations. The study showed that in addition to the involvement of the major ectodermal tissues, the majority of patients also have alterations of several minor ectodermal-derived structures. Characterizing the clinical spectrum resulting from ED1 gene mutations improves diagnosis and can direct clinical care.
KW - ED1 gene
KW - X-linked hypohidrotic ectodermal dysplasia
KW - genotype
KW - phenotype
U2 - 10.1111/cge.12404
DO - 10.1111/cge.12404
M3 - Article
VL - 87
SP - 338
EP - 342
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 4
ER -