Genotype‐phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review-Reference-Cited by-同舟云学术

Genotype‐phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review

Published:2020-06-29 Issue:1 Volume:99 Page:29-41
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Mariath Luiza Monteavaro¹^ORCID,Santin Juliana Tosetto²,Frantz Jeanine Aparecida³⁴,Doriqui Maria Juliana Rodovalho⁵,Schuler‐Faccini Lavínia¹⁶^ORCID,Kiszewski Ana Elisa⁷⁸^ORCID

Affiliation:

1. Postgraduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul Porto Alegre Brazil

2. Postgraduate Program in Child and Adolescent Health Universidade Federal do Rio Grande do Sul Porto Alegre Brazil

3. Faculty of Medicine Universidade Regional de Blumenau Blumenau Brazil

4. Board of Directors Debra‐Brasil Blumenau Brazil

5. Section of Medical Genetics Hospital Infantil Dr. Juvêncio Mattos São Luís Brazil

6. Department of Genetics Universidade Federal do Rio Grande do Sul and Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP) Porto Alegre Brazil

7. Section of Dermatology Universidade Federal de Ciências da Saúde de Porto Alegre Porto Alegre Brazil

8. Section of Pediatric Dermatology Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre Porto Alegre Brazil

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13792

Reference85 articles.

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

2. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

3. Congenital Localized Absence of Skin and Associated Abnormalities Resembling Epidermolysis Bullosa

4. Epidermolysis Bullosa and Congenital Localized Absence of Skin

5. Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study

Cited by 11 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement;Journal of Investigative Dermatology;2023-11

2. Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with Epidermolysis bullosa;2023-03-16

3. Molecular genetic basis of epidermolysis bullosa;Vavilov Journal of Genetics and Breeding;2023-03-06

4. Clinical and molecular studies in two patients with dystrophic epidermolysis bullosa;Indian Journal of Dermatology, Venereology and Leprology;2023-03-01

5. Missense Variant c.3301C>T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous COL7A1 Variants;Annals of Dermatology;2023