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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.
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. Callea M, et al. Among authors: sani i. J Eur Acad Dermatol Venereol. 2016 Feb;30(2):341-3. doi: 10.1111/jdv.12747. Epub 2014 Sep 30. J Eur Acad Dermatol Venereol. 2016. PMID: 25266272 No abstract available.
Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.
Callea M, Willoughby CE, Nieminen P, Di Stazio M, Bellacchio E, Giglio S, Sani I, Vinciguerra A, Maglione M, Tadini G, Clarich G. Callea M, et al. Among authors: sani i. J Eur Acad Dermatol Venereol. 2015 May;29(5):1032-4. doi: 10.1111/jdv.12457. Epub 2014 Mar 18. J Eur Acad Dermatol Venereol. 2015. PMID: 24641098 No abstract available.
CYP21A2 genetics: When genotype does not fit phenotype.
Sani I, Rossodivita AN, Mariani M, Costella A, Molinario R, Concolino P, Capoluongo E. Sani I, et al. Clin Biochem. 2016 Apr;49(6):524-525. doi: 10.1016/j.clinbiochem.2015.07.022. Epub 2015 Jul 21. Clin Biochem. 2016. PMID: 26209023 No abstract available.
74 results