Bart’s Syndrome with Novel Frameshift Mutations in the COL7A1 Gene-Reference-Cited by-同舟云学术

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Bart’s Syndrome with Novel Frameshift Mutations in the COL7A1 Gene

Published:2018-12-07 Issue:1 Volume:38 Page:72-79
ISSN:1551-3815
Container-title:Fetal and Pediatric Pathology
language:en
Short-container-title:Fetal and Pediatric Pathology

Author:

Han Young Mi¹²^ORCID,Lee Narae¹²,Byun Shin Yun¹²^ORCID,Cheon Sang-Jin³,Ko Hyun-Chang³⁴^ORCID

Affiliation:

1. Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan, Republic of Korea;

2. Department of Pediatrics, Pusan National University School of Medicine, Yangsan, Republic of Korea;

3. Department of Dermatology, Pusan National University Yangsan Hospital, Yangsan, Republic of Korea;

4. Department of Dermatology, Pusan National University School of Medicine, Yangsan, Republic of Korea

Publisher

Informa UK Limited

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/15513815.2018.1543370

Reference21 articles.

1. Hereditare anlage zur blasenbildung (epidermolysis bullosa hereditaria). Dtsch Med Wochenschr. 1886.

2. Studies on the Pathogenesis of Epidermolysis Bullosa**From the Section of Dermatology, Department of Medicine, University of Chicago, Chicago 37, Illinois.

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

4. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

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

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1. Large skin defect in Type V aplasia cutis congenita treated with conservative treatment: a case report;BMC Pediatrics;2024-05-07

2. Type VII Aplasia Cutis Congenita in Neonates Related to Maternal HBV Infection? Case Report and Literature Review;Clinical, Cosmetic and Investigational Dermatology;2023-02

3. Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1;Frontiers in Genetics;2022-04-01

4. Epidermolysis bullosa: Pediatric perspectives;Current Pediatric Reviews;2021-05-25

5. Epidermolysis bullosa with congenital absence of skin: Review of the literature;Pediatric Dermatology;2020-07-20

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