A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis-Reference-Cited by-同舟云学术

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

Published:2020-09-18 Issue:12 Volume:8 Page:3078-3080
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

Caroppo Francesca¹^ORCID,Cama Elena¹,Salmaso Roberto²,Bertolin Cinzia³,Salviati Leonardo³,Belloni Fortina Anna¹^ORCID

Affiliation:

1. Pediatric Dermatology Unit Department of Medicine DIMED University of Padova Padova Italy

2. Surgical Pathology & Cytopathology Unit Department of Medicine DIMED University of Padova Padova Italy

3. Clinical Genetics Unit Department of Women's and Children's Health IRP Città della Speranza University of Padova Padova Italy

Publisher

Wiley

Subject

General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.3341

Reference7 articles.

1. Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain ofKRT1

2. Epidermolytic ichthyosis without keratin 1 or 10 mutations: A case report

3.

Epidermolytic hyperkeratosis: clinical update

4. Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis

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1. Homozygous TNNI3 Mutations and Severe Early Onset Dilated Cardiomyopathy: Patient Report and Review of the Literature;Genes;2023-03-19

2. Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds;Veterinary Sciences;2022-08-15

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