A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis

Clinical Case Reports

卷:8

Leonardo Salviati¹  Cinzia Bertolin¹  Elena Cama²  Francesca Caroppo²  Anna Belloni Fortina²  Roberto Salmaso³ 

[1] Clinical Genetics Unit Department of Women's and Children's Health IRP Città della Speranza University of Padova Padova Italy;

[2] Pediatric Dermatology Unit Department of Medicine DIMED University of Padova Padova Italy;

[3] Surgical Pathology & Cytopathology Unit Department of Medicine DIMED University of Padova Padova Italy;

关键词: epidermolytic hyperkeratosis;    epidermolytic ichthyosis;    KRT1 gene;    novel mutation;   

DOI  :  10.1002/ccr3.3341

来源: DOAJ

【 摘 要 】

Abstract Epidermolytic Ichthyosis is a rare genodermatosis related to point mutations affecting the genes encoding for keratin 1 or keratin 10. We report a case of Epidermolytic Ichthyosis in a newborn with a novel mutation (c.1433A>G) of KRT1 gene.

【 授权许可】

Unknown