Literature DB >> 23278109

Different TGM1 mutation spectra in Italian and Portuguese patients with autosomal recessive congenital ichthyosis: evidence of founder effects in Portugal.

G Esposito, F De Falco, I Neri, C Graziano, B Toschi, L Auricchio, C Gouveia, A B Sousa, F Salvatore.   

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Year:  2013        PMID： 23278109     DOI： 10.1111/bjd.12179

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  2 in total

1.  Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate.

Authors:  Chiara De Leonibus; Claudio Lembo; Alfredo Santantonio; Tiziana Fioretti; Silvana Rojo; Francesco Salvatore; Massimiliano De Vivo; Gabriella Esposito; Paolo Giliberti
Journal:  J Dermatol Case Rep       Date:  2015-06-30

2.  Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients.

Authors:  Tiziana Fioretti; Luigi Auricchio; Angelo Piccirillo; Giuseppina Vitiello; Adelaide Ambrosio; Fabio Cattaneo; Rosario Ammendola; Gabriella Esposito
Journal:  Diagnostics (Basel)       Date:  2020-11-24
  2 in total

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