Literature DB >> 31012992

Impaired epidermal barrier in autosomal recessive congenital ichthyosis (ARCI) caused by missense mutations in SDR9C7 in two Austrian sisters.

Magdalena Seidl-Philipp1, Anna Sarah Schossig2, Verena Moosbrugger-Martinz1, Johannes Zschocke2, Matthias Schmuth1, Robert Gruber1.   

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Year:  2019        PMID： 31012992     DOI： 10.1111/ddg.13843

Source DB:  PubMed          Journal:  J Dtsch Dermatol Ges        ISSN： 1610-0379            Impact factor:   5.584


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  2 in total

1.  Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis.

Authors:  Juliette Mazereeuw-Hautier; Maella Severino-Freire; Véronique Gaston; Hélène Texier; Marie Vincent; Hélène Aubert; Fanny Morice-Picard; Nathalie Jonca
Journal:  Acta Derm Venereol       Date:  2020-02-05       Impact factor: 3.875

Review 2.  Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

Authors:  Jouni Uitto; Leila Youssefian; Amir Hossein Saeidian; Hassan Vahidnezhad
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875
  2 in total

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