Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review-Reference-Cited by-同舟云学术

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Autosomal recessive epidermolysis bullosa simplex due to EXPH5 mutation: neonatal diagnosis of the first Italian case and literature review

Published:2020-07-22 Issue:11 Volume:34 Page:
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Diociaiuti A.¹^ORCID,Pisaneschi E.²,Rossi S.³,Condorelli A.G.⁴,Carnevale C.¹^ORCID,Zambruno G.⁴,El Hachem M.¹

Affiliation:

1. Dermatology Unit Bambino Gesù Children's HospitalIRCCS Rome Italy

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

3. Pathology Unit Bambino Gesù Children's HospitalIRCCS Rome Italy

4. Genetics and Rare Diseases Research Division Bambino Gesù Children's HospitalIRCCS Rome Italy

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.16372

Reference8 articles.

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

2. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

3. Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

4. Molecular Heterogeneity of Epidermolysis Bullosa Simplex: Contribution of EXPH5 Mutations

5. Mutations inEXPH5result in autosomal recessive inherited skin fragility

Cited by 6 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. Epidermolysis bullosa simplex caused by a rare homozygous mutation in the EXPH5 gene;Clinical and Experimental Dermatology;2023-07-18

2. Seltene Form der Epidermolysis bullosa simplex mit homozygoter Mutation im Gen EXPH5;JDDG: Journal der Deutschen Dermatologischen Gesellschaft;2023-04

3. Potential di‐genic contribution to guttate leukoderma as the predominant feature of epidermolysis bullosa simplex;Experimental Dermatology;2022-08-23

4. Pathomechanisms of epidermolysis bullosa: Beyond structural proteins;Matrix Biology;2022-06

5. Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity;Diagnostics;2022-05-27

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