Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe-Reference-Cited by-同舟云学术

Hoarse cry in a newborn with epidermolysis bullosa simplex, generalized severe

Published:2020-03 Issue:2 Volume:37 Page:393-395
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Diociaiuti Andrea¹^ORCID,Giancristoforo Simona¹,Pisaneschi Elisa²,Condorelli Angelo Giuseppe³,Boldrini Renata⁴,Zambruno Giovanna³,El Hachem May¹^ORCID

Affiliation:

1. Dermatology Unit Bambino Gesù Children's Hospital IRCCS Rome Italy

2. Medical Genetics Laboratory Bambino Gesù Children's Hospital IRCCS Rome Italy

3. Genetics and Rare Diseases Research Division Bambino Gesù Children's Hospital IRCCS Rome Italy

4. Pathology Unit Bambino Gesù Children's Hospital IRCCS Rome Italy

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14105

Reference5 articles.

1. Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

2. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

3. Epidermolysis Bullosa Simplex: Recurrent and De Novo Mutations in the KRT5 and KRT14 Genes, Phenotype/Genotype Correlations, and Implications for Genetic Counseling and Prenatal Diagnosis

4. Severe Infantile Epidermolysis Bullosa Simplex

5. Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential

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1. Laryngeal stenosis associated with epidermolysis bullosa simplex;JAAD Case Reports;2020-05