Novel <scp> <i>LAMB3</i> </scp> variants in two Asian patients and an overview of <scp> <i>LAMB3</i> </scp> variants associated with generalized intermediate junctional epidermolysis bullosa-Reference-Cited by-同舟云学术

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Novel LAMB3 variants in two Asian patients and an overview of LAMB3 variants associated with generalized intermediate junctional epidermolysis bullosa

Published:2022-09-04 Issue:4 Volume:63 Page:
ISSN:0004-8380
Container-title:Australasian Journal of Dermatology
language:en
Short-container-title:Aust J Dermatology

Author:

Tan Ene‐Choo¹²^ORCID,Diana Inne Arline³,Wei Heming¹,Gondokaryono Srie Prihianti³,Dwiyana Reiva Farah³,Yogya Yuri³,Rahardja July Iriani³,Koh Mark Jean‐Aan²⁴^ORCID

Affiliation:

1. Research Laboratory KK Women's & Children's Hospital Singapore City Singapore

2. Paediatrics Academic Clinical Programme SingHealth Duke‐NUS Graduate Medical School Singapore City Singapore

3. Department Dermatology and Venereology, Faculty of Medicine Universitas Padjadjaran ‐ Dr Hasan Sadikin General Hospital Bandung Indonesia

4. Department of Dermatology KK Women's & Children's Hospital Singapore City Singapore

Funder

National Medical Research Council

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ajd.13918

Reference10 articles.

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

2. Application of whole exome sequencing in elucidating the phenotype and genotype spectrum of junctional epidermolysis bullosa: A preliminary experience of a tertiary care centre in India

3. Epidemiology of Inherited Epidermolysis Bullosa Based on Incidence and Prevalence Estimates From the National Epidermolysis Bullosa Registry

4. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants

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