Pyloric atresia–junctional epidermolysis bullosa syndrome: mutations in the integrin β4 gene (ITGB4) in two unrelated patients with mild disease-Reference-Cited by-同舟云学术

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Pyloric atresia–junctional epidermolysis bullosa syndrome: mutations in the integrin β4 gene (ITGB4) in two unrelated patients with mild disease

Published:1998-11 Issue:5 Volume:139 Page:862-871
ISSN:0007-0963
Container-title:British Journal of Dermatology
language:en
Short-container-title:British Journal of Dermatology

Author:

Mellerio ¹,Pulkkinen ²,Mcmillan ¹,Lake ³,Horn ⁴,Tidman ⁴,Harper ³,Mcgrath ¹,Uitto ²,Eady ¹

Affiliation:

1. Department of Cell and Molecular Pathology, St John's Institute of Dermatology (GKT), St Thomas' Hospital, London SE1 7EH, U.K.,

2. Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA, U.S.A.,

3. Department of Dermatology, Hospital for Sick Children, Great Ormond Street, London WC1N 3JH, U.K.,

4. Department of Dermatology, Royal Infirmary, Edinburgh EH3 9YW, U.K.

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1365-2133.1998.02515.x

Cited by 40 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. Junctional epidermolysis bullosa: genotype-phenotype correlations;Vestnik dermatologii i venerologii;2023-01-27

2. Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita;The Journal of Dermatology;2022-01-11

3. Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum;European Journal of Medical Genetics;2021-12

4. Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy;JAAD Case Reports;2021-05

5. Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020;Molecular Diagnosis & Therapy;2020-04-23

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