Phenotypic Heterogeneity and Mutational Spectrum in a Cohort of 45 Italian Males Subjects with X‐linked Ectodermal Dysplasia

L. Guazzarotti,G. Tadini, G. E. Mancini,S. Giglio,C. E. Willoughby,M. Callea,I. Sani,P. Nannini,C. Mameli, A. A. Tenconi,S. Mauri, A. Bottero, A. Caimi,M. Morelli,G. V. Zuccotti

Clinical genetics（2014）

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关键词

ED1 gene,genotype,X-linked hypohidrotic ectodermal dysplasia,phenotype

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